Quest Diagnostics Nichols Institute San Juan Capistrano
General information
Quest Diagnostics Nichols Institute San Juan Capistrano
33608 Ortega Highway
San Juan Capistrano
California
United States - 92675-2042
http://www.questdiagnostics.com/
Organization ID: 500110
33608 Ortega Highway
San Juan Capistrano
California
United States - 92675-2042
http://www.questdiagnostics.com/
Organization ID: 500110
Personnel
- Izabela Karbassi, Contact
Phone: 774-843-3231
Email: Izabela.X.Karbassi@QuestDiagnostics.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 15101
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABL1 | 1 | Aug 16, 2018 |
ACADM | 23 | Dec 31, 2020 |
ADAMTS17 | 1 | Aug 16, 2018 |
ADAMTS3 | 1 | Jul 31, 2020 |
ADCY2 | 1 | Aug 16, 2018 |
ADGRL3 | 1 | Jul 31, 2020 |
ADGRV1 | 3 | Jul 31, 2020 |
AFAP1 | 1 | Aug 28, 2019 |
AFF2 | 1 | Aug 16, 2018 |
AFF3 | 1 | Aug 28, 2019 |
AGAP1 | 3 | Jul 31, 2020 |
AGBL1 | 1 | Jul 31, 2020 |
AGBL4 | 8 | Jul 31, 2020 |
AGMO | 3 | Jul 31, 2020 |
AHI1 | 1 | Aug 28, 2019 |
ALK | 1 | Aug 28, 2019 |
ANK2 | 1 | Aug 16, 2018 |
ANKRD11 | 4 | Jul 31, 2020 |
ANKS1B | 5 | Jul 31, 2020 |
ANO10 | 1 | Aug 28, 2019 |
ANO3 | 1 | Jul 31, 2020 |
APC | 341 | Dec 31, 2020 |
APOB | 82 | Dec 31, 2020 |
APOB3'MAR | 1 | Dec 31, 2020 |
APP | 1 | Jul 31, 2020 |
ARFGEF1 | 1 | Aug 16, 2018 |
ARHGAP10 | 1 | Aug 16, 2018 |
ARHGAP42 | 1 | Aug 16, 2018 |
ARHGEF28 | 1 | Aug 28, 2019 |
ARID1B | 3 | Jul 31, 2020 |
ASCC3 | 1 | Aug 28, 2019 |
ASS1 | 1 | May 27, 2014 |
ASTN2 | 20 | Jul 31, 2020 |
ATP13A4 | 1 | Aug 16, 2018 |
ATP8A2 | 1 | Aug 16, 2018 |
ATP9B | 1 | Jul 31, 2020 |
ATRNL1 | 3 | Aug 16, 2018 |
ATXN1 | 1 | Aug 28, 2019 |
AUH | 1 | May 27, 2014 |
AUTS2 | 17 | Jul 31, 2020 |
BABAM2 | 1 | Jul 31, 2020 |
BARD1 | 110 | Dec 31, 2020 |
BBS2 | 1 | May 27, 2014 |
BBS9 | 3 | Jul 31, 2020 |
BCAS3 | 2 | Aug 28, 2019 |
BMPR1A | 61 | Dec 31, 2020 |
BMPR1B | 1 | Aug 28, 2019 |
BRCA1 | 877 | Dec 31, 2020 |
BRCA2 | 1482 | Dec 31, 2020 |
BRINP3 | 3 | Jul 31, 2020 |
BRIP1 | 143 | Dec 31, 2020 |
BTBD9 | 1 | Aug 16, 2018 |
BTD | 38 | Dec 31, 2020 |
CA10 | 1 | Aug 16, 2018 |
CACNA1C | 3 | Jul 31, 2020 |
CACNA2D1 | 3 | Aug 28, 2019 |
CACNA2D3 | 4 | Jul 31, 2020 |
CADM1 | 1 | Aug 16, 2018 |
CADM2 | 2 | Jul 31, 2020 |
CADPS2 | 2 | Jul 31, 2020 |
CALN1 | 2 | Jul 31, 2020 |
CAMK2D | 1 | Aug 28, 2019 |
CAMK4 | 1 | Aug 28, 2019 |
CAMTA1 | 2 | Aug 28, 2019 |
CCBE1 | 1 | Aug 28, 2019 |
CCDC102B | 1 | Aug 28, 2019 |
CCDC141 | 1 | Aug 28, 2019 |
CCDC148 | 1 | Aug 28, 2019 |
CCDC170 | 1 | Jul 31, 2020 |
CCDC7 | 2 | Aug 28, 2019 |
CCNY | 1 | Aug 28, 2019 |
CDH1 | 153 | Dec 31, 2020 |
CDH12 | 1 | Aug 28, 2019 |
CDH23 | 1 | Aug 16, 2018 |
CDH4 | 1 | Aug 28, 2019 |
CDK14 | 1 | Aug 16, 2018 |
CDK4 | 30 | Dec 31, 2020 |
CDKAL1 | 7 | Jul 31, 2020 |
CDKN2A | 40 | Dec 31, 2020 |
CENPP | 2 | Jul 31, 2020 |
CEP128 | 1 | Jul 31, 2020 |
CEP85L | 1 | Jul 31, 2020 |
CERS3 | 1 | Jul 31, 2020 |
CFAP20DC | 1 | Jul 31, 2020 |
CFTR | 224 | Dec 31, 2020 |
CFTR-AS1 | 32 | Dec 31, 2020 |
CHD6 | 1 | Jul 31, 2020 |
CHEK2 | 109 | Dec 31, 2020 |
CHL1 | 3 | Aug 28, 2019 |
CHRM3 | 1 | Aug 28, 2019 |
CHST11 | 1 | Jul 31, 2020 |
CLEC16A | 1 | Aug 28, 2019 |
CLTCL1 | 1 | Aug 16, 2018 |
CMIP | 1 | Aug 28, 2019 |
CNBD1 | 1 | Jul 31, 2020 |
CNTLN | 1 | Aug 28, 2019 |
CNTN4 | 20 | Jul 31, 2020 |
CNTN5 | 3 | Jul 31, 2020 |
CNTN6 | 4 | Jul 31, 2020 |
CNTNAP2 | 11 | Jul 31, 2020 |
CNTNAP5 | 1 | Aug 16, 2018 |
COBL | 1 | Aug 16, 2018 |
COL19A1 | 3 | Jul 31, 2020 |
COL24A1 | 1 | Jul 31, 2020 |
COL25A1 | 1 | Jul 31, 2020 |
COL4A5 | 1 | Jul 31, 2020 |
COLGALT2 | 1 | Aug 28, 2019 |
CORIN | 1 | Aug 16, 2018 |
COX10 | 1 | Aug 16, 2018 |
CPA6 | 1 | Aug 16, 2018 |
CPQ | 1 | Aug 28, 2019 |
CREBBP | 1 | Jul 31, 2020 |
CRPPA | 1 | Aug 16, 2018 |
CSMD1 | 9 | Jul 31, 2020 |
CSMD3 | 6 | Jul 31, 2020 |
CTNNA2 | 1 | Aug 28, 2019 |
CTNNA3 | 5 | Aug 28, 2019 |
CTNND2 | 5 | Jul 31, 2020 |
CUX1 | 2 | Jul 31, 2020 |
DACH2 | 1 | Aug 16, 2018 |
DENND4C | 2 | Jul 31, 2020 |
DGKB | 2 | Jul 31, 2020 |
DIAPH2 | 2 | Aug 28, 2019 |
DIAPH3 | 3 | Aug 28, 2019 |
DISC1 | 4 | Aug 28, 2019 |
DLG2 | 6 | Jul 31, 2020 |
DLGAP1 | 1 | Aug 16, 2018 |
DMD | 27 | Jul 31, 2020 |
DNAH14 | 1 | Jul 31, 2020 |
DNER | 1 | Aug 28, 2019 |
DOCK1 | 2 | Aug 28, 2019 |
DOCK3 | 1 | Aug 28, 2019 |
DOCK8 | 6 | Aug 28, 2019 |
DOK5 | 1 | Jul 31, 2020 |
DPYD | 4 | Jul 31, 2020 |
DTNBP1 | 1 | Aug 28, 2019 |
DYM | 2 | Aug 16, 2018 |
DYNC2H1 | 1 | Aug 16, 2018 |
EFCAB5 | 1 | Jul 31, 2020 |
EHMT1 | 2 | Jul 31, 2020 |
ELP3 | 1 | Aug 16, 2018 |
EML6 | 1 | Aug 16, 2018 |
ENOX1 | 1 | Aug 28, 2019 |
ENPP6 | 1 | Jul 31, 2020 |
ENTPD1 | 1 | Aug 16, 2018 |
EPB41L4A | 1 | Aug 28, 2019 |
EPHA6 | 1 | Aug 28, 2019 |
EPS8 | 1 | Aug 16, 2018 |
ERBB4 | 4 | Jul 31, 2020 |
ERC1 | 2 | Aug 28, 2019 |
ERC2 | 1 | Aug 28, 2019 |
ESR2 | 1 | Aug 16, 2018 |
EVC2 | 1 | Jul 31, 2020 |
EXOC4 | 5 | Jul 31, 2020 |
EXOC6B | 2 | Aug 16, 2018 |
EYA4 | 1 | Aug 16, 2018 |
EYS | 15 | Jul 31, 2020 |
FAF1 | 3 | Jul 31, 2020 |
FAM13A | 1 | Aug 16, 2018 |
FAM155A | 1 | Aug 16, 2018 |
FAM160A1 | 1 | Aug 16, 2018 |
FAM172A | 1 | Jul 31, 2020 |
FAM189A1 | 1 | Jul 31, 2020 |
FARS2 | 7 | Jul 31, 2020 |
FBXL17 | 1 | Jul 31, 2020 |
FBXO11 | 1 | Aug 1, 2017 |
FER | 1 | Jul 31, 2020 |
FER1L6 | 1 | Aug 16, 2018 |
FGF12 | 1 | Aug 16, 2018 |
FGF13 | 1 | Aug 28, 2019 |
FGF14 | 1 | Jul 31, 2020 |
FGGY | 3 | Jul 31, 2020 |
FHIT | 4 | Jul 31, 2020 |
FKTN | 1 | Aug 16, 2018 |
FOCAD | 2 | Aug 28, 2019 |
FOXP1 | 2 | Aug 28, 2019 |
FRAS1 | 1 | Aug 28, 2019 |
FREM1 | 1 | Aug 16, 2018 |
FSTL5 | 1 | Aug 16, 2018 |
FTO | 1 | Aug 16, 2018 |
GABBR2 | 1 | Aug 16, 2018 |
GALK2 | 1 | Jul 31, 2020 |
GALNT13 | 1 | Aug 28, 2019 |
GALNT7 | 1 | Aug 16, 2018 |
GALNTL6 | 3 | Jul 31, 2020 |
GBE1 | 2 | Jul 31, 2020 |
GHR | 2 | Jul 31, 2020 |
GLDC | 2 | Aug 28, 2019 |
GLI2 | 1 | Aug 16, 2018 |
GLI3 | 1 | Aug 16, 2018 |
GMDS | 2 | Aug 28, 2019 |
GPC5 | 5 | Jul 31, 2020 |
GPC6 | 4 | Jul 31, 2020 |
GPHN | 4 | Jul 31, 2020 |
GPM6A | 1 | Aug 16, 2018 |
GPR75-ASB3 | 1 | Jul 31, 2020 |
GRID1 | 2 | Jul 31, 2020 |
GRID2 | 2 | Aug 28, 2019 |
GRIN2A | 2 | Aug 28, 2019 |
GRIN2B | 1 | Jul 31, 2020 |
GRIP1 | 1 | Aug 16, 2018 |
GRM7 | 2 | Jul 31, 2020 |
GRM8 | 1 | Aug 16, 2018 |
HACL1 | 1 | Aug 1, 2017 |
HBA1 | 38 | Dec 31, 2020 |
HBA2 | 65 | Dec 31, 2020 |
HBB | 186 | Dec 31, 2020 |
HCN1 | 1 | Jul 31, 2020 |
HDAC4 | 1 | Aug 28, 2019 |
HDAC9 | 1 | Aug 16, 2018 |
HEXA | 3 | Oct 16, 2019 |
HMGCLL1 | 1 | Jul 31, 2020 |
HPSE2 | 1 | Aug 28, 2019 |
HYDIN | 1 | Aug 16, 2018 |
IGF1R | 1 | Aug 28, 2019 |
IL1RAPL1 | 10 | Jul 31, 2020 |
IL1RAPL2 | 3 | Jul 31, 2020 |
IMMP2L | 1 | Aug 28, 2019 |
INVS | 2 | Jul 31, 2020 |
IQCA1 | 1 | Aug 28, 2019 |
IQCJ-SCHIP1 | 1 | Aug 28, 2019 |
IQGAP2 | 1 | Jul 31, 2020 |
ITPR2 | 1 | Aug 16, 2018 |
JARID2 | 3 | Aug 28, 2019 |
JAZF1 | 1 | Aug 16, 2018 |
JMJD1C | 1 | Aug 28, 2019 |
KALRN | 1 | Jul 31, 2020 |
KANK1 | 5 | Jul 31, 2020 |
KATNIP | 1 | Aug 28, 2019 |
KCNH1 | 2 | Jul 31, 2020 |
KCNIP1 | 1 | Aug 16, 2018 |
KCNMA1 | 2 | Jul 31, 2020 |
KCNQ1 | 1 | Jul 31, 2020 |
KCNQ5 | 1 | Aug 28, 2019 |
KDM4C | 2 | Jul 31, 2020 |
KDM6A | 1 | Aug 16, 2018 |
KIAA1328 | 4 | Jul 31, 2020 |
KIF26B | 2 | Jul 31, 2020 |
KLLN | 22 | Dec 31, 2020 |
KNTC1 | 1 | Jul 31, 2020 |
LAMA2 | 3 | Jul 31, 2020 |
LAMC3 | 1 | Aug 28, 2019 |
LARGE1 | 7 | Jul 31, 2020 |
LCLAT1 | 1 | Jul 31, 2020 |
LDB2 | 1 | Aug 16, 2018 |
LDLR | 42 | Mar 6, 2020 |
LINGO2 | 7 | Jul 31, 2020 |
LOC106099062 | 129 | Dec 31, 2020 |
LOC106560211 | 2 | Oct 16, 2019 |
LOC106721785 | 3 | Aug 1, 2017 |
LOC106804612 | 65 | Dec 31, 2020 |
LOC106804613 | 38 | Dec 31, 2020 |
LOC107133510 | 186 | Dec 31, 2020 |
LOC110006319 | 63 | Dec 31, 2020 |
LOC111589215 | 3 | Oct 16, 2019 |
LOC111674463 | 6 | Dec 31, 2020 |
LOC111674472 | 22 | Dec 31, 2020 |
LOC111674475 | 11 | Dec 31, 2020 |
LOC111674477 | 7 | Dec 31, 2020 |
LOC113633877 | 2 | Mar 6, 2020 |
LOC113664106 | 1 | Aug 31, 2018 |
LPP | 2 | Jul 31, 2020 |
LRBA | 1 | Aug 16, 2018 |
LRCH3 | 1 | Jul 31, 2020 |
LRFN5 | 2 | Aug 28, 2019 |
LRGUK | 1 | Aug 16, 2018 |
LRP1B | 5 | Jul 31, 2020 |
LRRC4C | 3 | Jul 31, 2020 |
LTBP1 | 1 | Aug 28, 2019 |
LUZP1 | 1 | Jul 31, 2020 |
MACROD2 | 4 | Jul 31, 2020 |
MAD1L1 | 1 | Aug 28, 2019 |
MAGI1 | 1 | Aug 16, 2018 |
MAGI2 | 1 | Jul 31, 2020 |
MAP4 | 1 | Aug 16, 2018 |
MAP4K3 | 1 | Aug 16, 2018 |
MARCHF1 | 3 | Jul 31, 2020 |
MAST4 | 1 | Aug 16, 2018 |
MBD5 | 10 | Jul 31, 2020 |
MCC | 2 | Aug 28, 2019 |
MCPH1 | 3 | Aug 28, 2019 |
MCTP2 | 1 | Aug 28, 2019 |
MDGA2 | 2 | Jul 31, 2020 |
MED12L | 1 | Jul 31, 2020 |
MED13L | 5 | Aug 28, 2019 |
MEF2C | 1 | Jul 31, 2020 |
MEFV | 7 | Mar 6, 2020 |
MELK | 1 | Jul 31, 2020 |
METTL15 | 1 | Aug 16, 2018 |
MGAT4C | 1 | Jul 31, 2020 |
MGMT | 2 | Aug 28, 2019 |
MICU1 | 2 | Jul 31, 2020 |
MID1 | 2 | Jul 31, 2020 |
MITF | 1 | Aug 28, 2019 |
MLH1 | 177 | Dec 31, 2020 |
MMP16 | 1 | Jul 31, 2020 |
MSH2 | 211 | Dec 31, 2020 |
MSH3 | 1 | Aug 28, 2019 |
MSH6 | 329 | Dec 31, 2020 |
MSRA | 2 | Aug 28, 2019 |
MUTYH | 117 | Dec 31, 2020 |
MYO1D | 1 | Aug 16, 2018 |
MYO3A | 1 | Aug 28, 2019 |
MYO3B | 1 | Aug 16, 2018 |
MYO5A | 1 | Aug 28, 2019 |
MYT1L | 2 | Jul 31, 2020 |
NAALADL2 | 3 | Jul 31, 2020 |
NALCN | 1 | Aug 16, 2018 |
NBAS | 5 | Aug 28, 2019 |
NBN | 97 | Dec 31, 2020 |
NCKAP5 | 4 | Jul 31, 2020 |
NEBL | 1 | Aug 16, 2018 |
NEGR1 | 2 | Jul 31, 2020 |
NEK11 | 1 | Jul 31, 2020 |
NELL2 | 1 | Aug 16, 2018 |
NKAIN2 | 2 | Jul 31, 2020 |
NLGN4X | 2 | Aug 28, 2019 |
NME7 | 1 | Aug 28, 2019 |
NOS1AP | 1 | Aug 28, 2019 |
NOTCH2 | 1 | Aug 28, 2019 |
NPAS3 | 1 | Jul 31, 2020 |
NR3C2 | 1 | Jul 31, 2020 |
NRCAM | 1 | Jul 31, 2020 |
NRG3 | 2 | Jul 31, 2020 |
NRXN1 | 25 | Jul 31, 2020 |
NSD2 | 1 | Aug 28, 2019 |
NSMCE2 | 1 | Aug 28, 2019 |
NUDCD1 | 1 | Aug 28, 2019 |
NXPH1 | 1 | Aug 16, 2018 |
OCA2 | 2 | Jul 31, 2020 |
OPCML | 1 | Aug 16, 2018 |
OSGIN2 | 1 | Oct 16, 2019 |
PACRG | 1 | Jul 31, 2020 |
PACSIN2 | 1 | Aug 16, 2018 |
PAH | 44 | Dec 31, 2020 |
PALB2 | 171 | Dec 31, 2020 |
PARD3 | 4 | Jul 31, 2020 |
PARVB | 1 | Aug 16, 2018 |
PATJ | 1 | Aug 28, 2019 |
PCCA | 4 | Jul 31, 2020 |
PCDH11X | 2 | Aug 16, 2018 |
PCDH15 | 3 | Aug 16, 2018 |
PCDH9 | 2 | Aug 16, 2018 |
PCLO | 1 | Aug 28, 2019 |
PCSK9 | 18 | Mar 6, 2020 |
PDE11A | 1 | Jul 31, 2020 |
PDE4D | 5 | Jul 31, 2020 |
PHACTR2 | 1 | Jul 31, 2020 |
PI4KA | 1 | Jul 31, 2020 |
PIBF1 | 1 | Jul 31, 2020 |
PIGN | 1 | Jul 31, 2020 |
PIK3C2G | 2 | Jul 31, 2020 |
PKD1L1 | 1 | Aug 28, 2019 |
PKHD1 | 1 | Aug 16, 2018 |
PLA2R1 | 1 | Aug 28, 2019 |
PLCB1 | 2 | Jul 31, 2020 |
PLEKHA7 | 1 | Jul 31, 2020 |
PMS2 | 180 | Dec 31, 2020 |
POLD1 | 266 | Dec 31, 2020 |
POLE | 414 | Dec 31, 2020 |
PPFIBP2 | 1 | Jul 31, 2020 |
PPM1L | 1 | Aug 16, 2018 |
PPP1R1C | 1 | Aug 28, 2019 |
PPP2R2C | 1 | Aug 16, 2018 |
PRKAG2 | 1 | Aug 16, 2018 |
PRKCA | 1 | Jul 31, 2020 |
PRKG1 | 1 | Jul 31, 2020 |
PRKN | 23 | Jul 31, 2020 |
PSD3 | 4 | Jul 31, 2020 |
PTEN | 67 | Dec 31, 2020 |
PTGER3 | 1 | Aug 28, 2019 |
PTPN4 | 1 | Aug 16, 2018 |
PTPRD | 7 | Jul 31, 2020 |
PTPRM | 2 | Aug 28, 2019 |
PTPRN2 | 5 | Aug 28, 2019 |
PTPRT | 4 | Jul 31, 2020 |
PXDNL | 1 | Jul 31, 2020 |
RABGAP1L | 1 | Aug 16, 2018 |
RAD51C | 54 | Dec 31, 2020 |
RAD51D | 56 | Dec 31, 2020 |
RAD51L3-RFFL | 56 | Dec 31, 2020 |
RASGRF2 | 1 | Aug 28, 2019 |
RBFOX1 | 16 | Jul 31, 2020 |
RERE | 1 | Aug 28, 2019 |
RFC3 | 1 | Aug 16, 2018 |
RFXAP | 1 | May 27, 2014 |
RGL1 | 1 | Aug 16, 2018 |
RGS22 | 1 | Jul 31, 2020 |
RHBDD1 | 3 | Aug 28, 2019 |
RIMS2 | 1 | Aug 16, 2018 |
RPGRIP1L | 1 | Aug 28, 2019 |
RPS6KA2 | 1 | Aug 28, 2019 |
RREB1 | 1 | Aug 28, 2019 |
RSRC1 | 2 | Aug 16, 2018 |
RUFY3 | 1 | Aug 16, 2018 |
RYR2 | 4 | Jul 31, 2020 |
RYR3 | 1 | Jul 31, 2020 |
SATB2 | 1 | Jul 31, 2020 |
SBF2 | 1 | Jul 31, 2020 |
SCAPER | 1 | Aug 28, 2019 |
SCFD1 | 1 | Aug 16, 2018 |
SCFD2 | 2 | Aug 28, 2019 |
SDCCAG8 | 1 | Aug 16, 2018 |
SDHC | 20 | Dec 31, 2020 |
SDHD | 18 | Dec 31, 2020 |
SDK1 | 6 | Jul 31, 2020 |
SEL1L2 | 1 | Jul 31, 2020 |
SEMA3A | 1 | Jul 31, 2020 |
SEMA3E | 1 | Aug 28, 2019 |
SEMA6A | 1 | Jul 31, 2020 |
SERGEF | 1 | Aug 28, 2019 |
SGCZ | 2 | Aug 28, 2019 |
SH3PXD2A | 1 | Aug 28, 2019 |
SHANK2 | 2 | Aug 16, 2018 |
SHOC1 | 1 | Aug 16, 2018 |
SLC20A2 | 1 | Aug 16, 2018 |
SLC24A2 | 1 | Aug 16, 2018 |
SLC2A13 | 1 | Aug 28, 2019 |
SLC30A8 | 1 | Aug 28, 2019 |
SLC44A5 | 1 | Aug 28, 2019 |
SMAD4 | 46 | Dec 31, 2020 |
SMAD9 | 1 | May 27, 2014 |
SMARCA2 | 1 | Aug 16, 2018 |
SMARCAL1 | 1 | Aug 28, 2019 |
SMYD3 | 3 | Jul 31, 2020 |
SNCAIP | 1 | Aug 28, 2019 |
SND1 | 1 | Aug 28, 2019 |
SNTG1 | 1 | Aug 28, 2019 |
SNTG2 | 1 | Jul 31, 2020 |
SNX29 | 4 | Jul 31, 2020 |
SOX5 | 4 | Aug 28, 2019 |
SP4 | 1 | Aug 28, 2019 |
SPAG16 | 4 | Jul 31, 2020 |
SPATA5 | 3 | Aug 28, 2019 |
SPATA6 | 1 | Aug 28, 2019 |
SPIRE1 | 1 | Aug 28, 2019 |
SPOCK1 | 1 | Aug 28, 2019 |
SRBD1 | 1 | Jul 31, 2020 |
STAG1 | 1 | Aug 16, 2018 |
STK11 | 102 | Dec 31, 2020 |
STK32B | 2 | Aug 16, 2018 |
STON1-GTF2A1L | 1 | Aug 28, 2019 |
STPG2 | 1 | Aug 28, 2019 |
STS | 1 | Aug 16, 2018 |
STX8 | 1 | Aug 16, 2018 |
STXBP5L | 1 | Aug 28, 2019 |
SUGCT | 8 | Jul 31, 2020 |
SUPT3H | 3 | Jul 31, 2020 |
SUSD4 | 1 | Aug 28, 2019 |
SYNE1 | 1 | Aug 28, 2019 |
SYT1 | 1 | Aug 28, 2019 |
SYT9 | 1 | Jul 31, 2020 |
TBC1D22A | 1 | Aug 16, 2018 |
TBC1D32 | 1 | Jul 31, 2020 |
TBC1D5 | 1 | Aug 16, 2018 |
TBCD | 1 | Aug 16, 2018 |
TBCK | 1 | Aug 28, 2019 |
TBL1XR1 | 1 | Aug 16, 2018 |
TCF4 | 4 | Aug 28, 2019 |
TEK | 1 | Aug 28, 2019 |
TENM3 | 1 | Aug 16, 2018 |
TENM4 | 3 | Jul 31, 2020 |
TESK2 | 1 | Aug 16, 2018 |
TEX14 | 1 | Aug 16, 2018 |
THADA | 2 | Jul 31, 2020 |
THRB | 34 | Dec 31, 2020 |
THSD7A | 1 | Aug 28, 2019 |
TIAM1 | 2 | Jul 31, 2020 |
TMC2 | 1 | Jul 31, 2020 |
TMEM117 | 1 | Aug 28, 2019 |
TMEM135 | 1 | Aug 28, 2019 |
TMEM241 | 1 | Jul 31, 2020 |
TMEM260 | 1 | Aug 16, 2018 |
TMLHE | 3 | Jul 31, 2020 |
TMTC1 | 1 | Aug 16, 2018 |
TMTC2 | 1 | Jul 31, 2020 |
TOE1 | 4 | Dec 31, 2020 |
TP53 | 72 | Dec 31, 2020 |
TRAPPC9 | 4 | Jul 31, 2020 |
TRPM1 | 1 | Aug 28, 2019 |
TRPM3 | 1 | Aug 16, 2018 |
TRPS1 | 1 | Aug 28, 2019 |
TSPAN31 | 15 | Mar 6, 2020 |
TTC23 | 1 | Aug 16, 2018 |
TTC28 | 1 | Aug 16, 2018 |
TTLL11 | 1 | Jul 31, 2020 |
TUSC3 | 1 | Aug 28, 2019 |
UBE3A | 1 | Aug 28, 2019 |
UGT1A8 | 1 | Aug 16, 2018 |
ULK4 | 1 | Jul 31, 2020 |
UNC13C | 1 | Aug 28, 2019 |
USH2A | 4 | Jul 31, 2020 |
VAT1L | 1 | Aug 16, 2018 |
VEPH1 | 1 | Aug 28, 2019 |
VIT | 1 | Aug 16, 2018 |
VPS13B | 4 | Jul 31, 2020 |
VPS13D | 1 | Jul 31, 2020 |
VWC2L | 1 | Aug 16, 2018 |
VWF | 168 | Dec 31, 2020 |
WDFY2 | 1 | Aug 28, 2019 |
WDHD1 | 1 | Aug 28, 2019 |
WDR27 | 1 | Aug 28, 2019 |
WDR70 | 1 | Aug 16, 2018 |
WDR72 | 1 | Jul 31, 2020 |
WWOX | 7 | Jul 31, 2020 |
XRCC4 | 3 | Jul 31, 2020 |
YWHAE | 1 | Aug 28, 2019 |
ZEB1 | 1 | Aug 16, 2018 |
ZFHX3 | 1 | Aug 28, 2019 |
ZMAT4 | 1 | Aug 16, 2018 |
ZNF83 | 2 | Jul 31, 2020 |
ZNRF3 | 1 | Jul 31, 2020 |
ZRANB3 | 3 | Jul 31, 2020 |
Condition
Name | Submissions | Last Updated |
---|---|---|
3-Methylglutaconic aciduria type 1 | 1 | May 27, 2014 |
Bardet-Biedl syndrome 2 | 1 | May 27, 2014 |
Bare lymphocyte syndrome 2 | 1 | May 27, 2014 |
Breast-ovarian cancer, familial 1 | 116 | Jul 18, 2016 |
Breast-ovarian cancer, familial 2 | 146 | Jul 18, 2016 |
Citrullinemia type I | 1 | May 27, 2014 |
Laron-type isolated somatotropin defect | 1 | May 27, 2014 |
Primary autosomal recessive microcephaly 1 | 1 | May 27, 2014 |
not provided | 13400 | Dec 31, 2020 |
not specified | 1433 | Dec 31, 2020 |
Testing in GTR
Disease name | Number of tests |
---|---|
11q partial monosomy syndrome | 1 test |
2-aminoadipic 2-oxoadipic aciduria | 3 tests |
3-Hydroxyisobutyric aciduria | 1 test |
3-MCC Deficiency | 3 tests |
3-Methylglutaconic aciduria type 1 | 3 tests |
46,XX testicular disorder of sex development | 1 test |
4p partial monosomy syndrome | 2 tests |
5-Oxoprolinase deficiency | 1 test |
5p partial monosomy syndrome | 2 tests |
Achondroplasia | 2 tests |
Acute intermittent porphyria | 2 tests |
Adrenoleukodystrophy | 1 test |
Advanced maternal age gravida | 5 tests |
Alkaptonuria | 1 test |
Alpha-1-antitrypsin deficiency | 2 tests |
Alpha-methylacyl-CoA racemase deficiency | 1 test |
Angelman syndrome | 3 tests |
Arginase deficiency | 2 tests |
Argininosuccinate lyase deficiency | 4 tests |
Atrial fibrillation | 1 test |
Autism spectrum disorder | 7 tests |
BAP1 tumor predisposition syndrome | 1 test |
Beta-hydroxyisobutyryl-CoA deacylase deficiency | 2 tests |
Biotinidase deficiency | 5 tests |
Bloom syndrome | 1 test |
Breast cancer, susceptibility to | 6 tests |
Breast neoplasm | 1 test |
Breast-ovarian cancer, familial 3 | 3 tests |
Breast-ovarian cancer, familial 4 | 3 tests |
Bronchiectasis | 1 test |
CYP2C19-related poor drug metabolism | 3 tests |
Carnitine acylcarnitine translocase deficiency | 2 tests |
Carnitine palmitoyltransferase 1A deficiency | 3 tests |
Carnitine palmitoyltransferase II deficiency | 2 tests |
Cholesteryl ester storage disease | 1 test |
Chromosome 1p36 deletion syndrome | 1 test |
Citrullinemia type I | 5 tests |
Citrullinemia type II | 4 tests |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2 tests |
Cobalamin deficiency | 2 tests |
Cognitive impairment | 7 tests |
Colorectal cancer 10 | 4 tests |
Combined d-2- and l-2-hydroxyglutaric aciduria | 1 test |
Complete trisomy 13 syndrome | 1 test |
Complete trisomy 18 syndrome | 1 test |
Complete trisomy 21 syndrome | 1 test |
Congenital anomalies | 5 tests |
Congenital chromosomal disease | 2 tests |
Congenital erythropoietic porphyria | 3 tests |
Congenital hyperammonemia, type I | 2 tests |
Congenital plasminogen activator inhibitor type 1 deficiency | 1 test |
Coronary artery disease | 2 tests |
Coronary artery disease, susceptibility to | 2 tests |
Cowden syndrome | 1 test |
Cowden syndrome 1 | 5 tests |
Cutaneous malignant melanoma 2 | 3 tests |
Cystic fibrosis | 10 tests |
Cystinuria | 2 tests |
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | 1 test |
Deficiency of 2-methylbutyryl-CoA dehydrogenase | 3 tests |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 2 tests |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2 tests |
Deficiency of acetyl-CoA acetyltransferase | 3 tests |
Deficiency of butyryl-CoA dehydrogenase | 3 tests |
Deficiency of glycerol kinase | 1 test |
Deficiency of hydroxymethylglutaryl-CoA lyase | 3 tests |
Deficiency of isobutyryl-CoA dehydrogenase | 3 tests |
Deficiency of malonyl-CoA decarboxylase | 3 tests |
Deficiency of phosphoserine phosphatase | 2 tests |
DiGeorge sequence | 2 tests |
Dihydropyrimidine dehydrogenase deficiency | 3 tests |
Disorder due cytochrome p450 CYP2D6 variant | 3 tests |
Disorder of cardiovascular system | 1 test |
Disorder of organic acid metabolism | 1 test |
Disorder of the urea cycle metabolism | 1 test |
Double Y syndrome | 1 test |
Dysmorphic features | 7 tests |
EGFR-related lung cancer | 1 test |
Ethylmalonic encephalopathy | 3 tests |
Familial Mediterranean fever | 2 tests |
Familial adenomatous polyposis 1 | 1 test |
Familial cancer of breast | 4 tests |
Familial colorectal cancer | 4 tests |
Familial dysautonomia | 1 test |
Familial hypercholesterolemia | 2 tests |
Familial hyperinsulinism | 1 test |
Familial multiple polyposis syndrome | 5 tests |
Familial prostate carcinoma | 2 tests |
Fanconi anemia, complementation group C | 1 test |
Fragile X syndrome | 1 test |
Fragile X tremor/ataxia syndrome | 1 test |
Fumarase deficiency | 1 test |
Gaucher disease | 1 test |
Gilbert's syndrome | 2 tests |
Global developmental delay | 7 tests |
Glutaric aciduria, type 1 | 3 tests |
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 1 test |
Gorlin syndrome | 2 tests |
HSD10 disease | 3 tests |
HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED | 1 test |
Hawkinsinuria | 1 test |
Hb SS disease | 2 tests |
Hepatitis C virus infection, response to therapy of | 1 test |
Hereditary Paraganglioma-Pheochromocytoma Syndromes | 3 tests |
Hereditary breast and ovarian cancer syndrome | 7 tests |
Hereditary cancer-predisposing syndrome | 1 test |
Hereditary coproporphyria | 4 tests |
Hereditary diffuse gastric cancer | 7 tests |
Hereditary disease | 4 tests |
Hereditary factor VIII deficiency disease | 1 test |
Hereditary factor XI deficiency disease | 1 test |
Hereditary hearing loss and deafness | 1 test |
Hereditary hemochromatosis | 1 test |
Hereditary leiomyomatosis and renal cell cancer | 2 tests |
Hereditary melanoma | 4 tests |
Hereditary nonpolyposis colon cancer | 7 tests |
Hereditary pancreatitis | 1 test |
Hereditary thrombophilia | 1 test |
Histidine transport defect | 4 tests |
Holocarboxylase synthetase deficiency | 3 tests |
Homocystinuria | 2 tests |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 1 test |
Huntington disease | 2 tests |
Hypercoagulability | 2 tests |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 2 tests |
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) | 1 test |
Iminoglycinuria | 2 tests |
Infertility | 4 tests |
Inherited renal cancer-predisposing syndrome | 1 test |
Isovaleryl-CoA dehydrogenase deficiency | 3 tests |
Joubert syndrome | 1 test |
Joubert syndrome 2 | 1 test |
Juvenile polyposis syndrome | 6 tests |
Klinefelter's syndrome, XXY | 6 tests |
Known OR suspected fetal abnormality affecting management of mother | 6 tests |
Langer-Giedion syndrome | 1 test |
Li-Fraumeni syndrome | 7 tests |
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 3 tests |
Lynch syndrome | 4 tests |
Lysinuric protein intolerance | 2 tests |
Lysosomal acid lipase deficiency | 1 test |
MYH-associated polyposis | 6 tests |
Maple syrup urine disease | 4 tests |
Maple syrup urine disease, type 3 | 2 tests |
Maternal care for suspected chromosomal abnormality in fetus | 6 tests |
Medium-chain acyl-coenzyme A dehydrogenase deficiency | 6 tests |
Methylmalonate semialdehyde dehydrogenase deficiency | 1 test |
Methylmalonic acidemia | 5 tests |
Mevalonic aciduria | 1 test |
Microcephaly, normal intelligence and immunodeficiency | 4 tests |
Miller Dieker syndrome | 1 test |
Mitochondrial diseases | 4 tests |
Mosaic sex chromosome aneuploidy | 2 tests |
Mucolipidosis type IV | 1 test |
Multiple acyl-CoA dehydrogenase deficiency | 3 tests |
Multiple congenital anomalies | 10 tests |
Multiple endocrine neoplasia, type 1 | 4 tests |
Multiple endocrine neoplasia, type 2 | 4 tests |
Multiple endocrine neoplasia, type 4 | 1 test |
Multiple fibrofolliculomas | 1 test |
Myocardial infarction | 3 tests |
Neurofibromatosis, type 1 | 6 tests |
Neutral 1 amino acid transport defect | 2 tests |
Niemann-Pick disease, type A | 1 test |
Niemann-Pick disease, type B | 1 test |
Non-ketotic hyperglycinemia | 4 tests |
Ornithine aminotransferase deficiency | 2 tests |
Ornithine carbamoyltransferase deficiency | 3 tests |
Oxoglutaricaciduria | 1 test |
PTEN hamartoma tumor syndrome | 1 test |
Pancreatic cancer 3 | 4 tests |
Peroxisome biogenesis disorders, Zellweger syndrome spectrum | 1 test |
Peutz-Jeghers syndrome | 7 tests |
Phenylketonuria | 5 tests |
Phosphoglycerate dehydrogenase deficiency | 2 tests |
Phytanic acid storage disease | 1 test |
Porphobilinogen synthase deficiency | 2 tests |
Porphyria cutanea tarda | 3 tests |
Prader-Willi syndrome | 3 tests |
Primary hyperoxaluria, type I | 1 test |
Primary hyperoxaluria, type II | 1 test |
Propionic acidemia | 3 tests |
Protoporphyria, erythropoietic, 1 | 2 tests |
Protoporphyria, erythropoietic, X-linked | 2 tests |
Pure gonadal dysgenesis 46,XY | 1 test |
Pyruvate dehydrogenase complex deficiency | 1 test |
Recurrent abortion | 6 tests |
Renal carnitine transport defect | 3 tests |
Rett syndrome | 2 tests |
Rhabdoid tumor predisposition syndrome 2 | 1 test |
Ribavirin response | 1 test |
Sarcosine dehydrogenase deficiency | 2 tests |
Shprintzen syndrome | 1 test |
Sickle cell-hemoglobin C disease | 2 tests |
Smith-Magenis syndrome | 1 test |
Spermatogenic failure, Y-linked 2 | 1 test |
Spinal muscular atrophy | 2 tests |
Spongy degeneration of central nervous system | 2 tests |
Spontaneous abortion | 4 tests |
Statins, attenuated cholesterol lowering by | 1 test |
Succinate-semialdehyde dehydrogenase deficiency | 1 test |
Tay-Sachs disease | 2 tests |
Thiopurine methyltransferase deficiency | 1 test |
Thrombophilia due to activated protein C resistance | 1 test |
Thyroid hormone resistance, generalized, autosomal dominant | 1 test |
Trisomy X syndrome | 1 test |
Tuberous sclerosis 1 | 1 test |
Tuberous sclerosis 2 | 1 test |
Tuberous sclerosis syndrome | 2 tests |
Turner syndrome | 6 tests |
Tyrosinemia type I | 3 tests |
Tyrosinemia type II | 3 tests |
Usher Syndrome, Type III | 1 test |
Usher syndrome type 1F | 1 test |
Variegate porphyria | 4 tests |
Very long chain acyl-CoA dehydrogenase deficiency | 2 tests |
Von Hippel-Lindau syndrome | 4 tests |
Walker-Warburg Syndrome, Fktn-Related | 1 test |
Warfarin response | 4 tests |
Williams syndrome | 1 test |
Wolman disease | 1 test |
X-linked ichthyosis with steryl-sulfatase deficiency | 1 test |
alpha Thalassemia | 7 tests |
beta Thalassemia | 3 tests |
von Willebrand disorder | 1 test |