Stanford Center for Inherited Cardiovascular Disease (Stanford University), SCICD
General information
Stanford Center for Inherited Cardiovascular Disease, SCICD
Stanford University
Stanford
United States
http://familyheart.stanford.edu/
Organization ID: 505443
Stanford University
Stanford
United States
http://familyheart.stanford.edu/
Organization ID: 505443
Personnel
- Mitchel Pariani, Genetic Counselor
Phone: (650) 498-0675
Email: mpariani@stanfordhealthcare.org
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 1054
Gene
Gene | Submissions | Last Updated |
---|---|---|
A2ML1 | 1 | Aug 15, 2018 |
ABCC9 | 6 | Aug 15, 2018 |
ACADVL | 1 | Aug 15, 2018 |
ACTA2 | 2 | Aug 15, 2018 |
ACTA2-AS1 | 1 | Aug 15, 2018 |
ACTC1 | 5 | Aug 15, 2018 |
ACTN2 | 17 | Aug 15, 2018 |
AGL | 2 | Aug 15, 2018 |
AKAP9 | 13 | Aug 16, 2018 |
ALMS1 | 9 | Aug 15, 2018 |
ANK2 | 21 | Aug 15, 2018 |
ANKRD1 | 4 | Aug 15, 2018 |
APOB | 4 | Aug 15, 2018 |
BAG3 | 11 | Aug 15, 2018 |
CACNA1C | 9 | Aug 15, 2018 |
CACNA1C-AS1 | 2 | Aug 15, 2018 |
CACNB2 | 2 | Aug 15, 2018 |
CALM2 | 1 | Aug 15, 2018 |
CALM3 | 1 | Aug 15, 2018 |
CASQ2 | 3 | Aug 15, 2018 |
CAV3 | 4 | Aug 15, 2018 |
CBL | 1 | Aug 15, 2018 |
CBS | 1 | Aug 15, 2018 |
CEP85L | 3 | Aug 15, 2018 |
COL3A1 | 1 | May 6, 2016 |
CRYAB | 1 | Aug 15, 2018 |
CSRP3 | 4 | Aug 15, 2018 |
CTNNA3 | 2 | Aug 15, 2018 |
DEPDC5 | 1 | Aug 15, 2018 |
DES | 4 | May 6, 2016 |
DMD | 13 | Aug 15, 2018 |
DNAAF3 | 1 | May 6, 2016 |
DOLK | 1 | Aug 15, 2018 |
DSC2 | 11 | Aug 15, 2018 |
DSG2 | 9 | Aug 16, 2018 |
DSG2-AS1 | 1 | May 6, 2016 |
DSP | 38 | Aug 15, 2018 |
DTNA | 2 | Aug 15, 2018 |
ELAC2 | 6 | Aug 15, 2018 |
EMD | 3 | May 6, 2016 |
ENG | 1 | Aug 15, 2018 |
FKRP | 4 | Aug 15, 2018 |
FKTN | 2 | Aug 15, 2018 |
FLNA | 1 | Aug 15, 2018 |
FLNC | 6 | Aug 15, 2018 |
FLNC-AS1 | 3 | Aug 15, 2018 |
GAA | 6 | Aug 15, 2018 |
GATA4 | 1 | Aug 15, 2018 |
GLA | 6 | Aug 15, 2018 |
GPD1L | 1 | Aug 15, 2018 |
HCN4 | 5 | Aug 15, 2018 |
ILK | 2 | Aug 15, 2018 |
JAG1 | 1 | May 6, 2016 |
JPH2 | 7 | Aug 15, 2018 |
JUP | 5 | Aug 15, 2018 |
KCNA5 | 2 | Aug 15, 2018 |
KCND3 | 1 | Aug 15, 2018 |
KCNE1 | 4 | Aug 15, 2018 |
KCNE2 | 2 | Aug 15, 2018 |
KCNE3 | 2 | May 6, 2016 |
KCNH2 | 29 | Aug 16, 2018 |
KCNJ2 | 1 | Aug 15, 2018 |
KCNJ5 | 1 | Aug 15, 2018 |
KCNJ8 | 1 | May 6, 2016 |
KCNK3 | 1 | Aug 15, 2018 |
KCNQ1 | 50 | Aug 16, 2018 |
KCNQ1OT1 | 2 | May 6, 2016 |
KCNT1 | 1 | Aug 15, 2018 |
LAMA4 | 11 | Aug 15, 2018 |
LAMA4-AS1 | 1 | Aug 15, 2018 |
LAMP2 | 6 | Aug 15, 2018 |
LDB3 | 9 | Aug 15, 2018 |
LDLR | 27 | Aug 15, 2018 |
LIPT2 | 1 | May 6, 2016 |
LMNA | 19 | Aug 15, 2018 |
LOC101928174 | 5 | Aug 15, 2018 |
LOC110121269 | 3 | May 6, 2016 |
LOC110121288 | 2 | Aug 15, 2018 |
LOC114827850 | 1 | May 6, 2016 |
LOC114827851 | 1 | Aug 15, 2018 |
MHRT | 9 | Aug 15, 2018 |
MT-ND1 | 4 | May 6, 2016 |
MT-ND5 | 1 | May 6, 2016 |
MT-ND6 | 1 | May 6, 2016 |
MT-TG | 1 | May 6, 2016 |
MT-TI | 5 | May 6, 2016 |
MT-TK | 1 | May 6, 2016 |
MT-TL1 | 1 | May 6, 2016 |
MT-TQ | 1 | May 6, 2016 |
MT-TS1 | 1 | May 6, 2016 |
MTO1 | 1 | Aug 15, 2018 |
MYBPC3 | 116 | Aug 16, 2018 |
MYH11 | 2 | Aug 15, 2018 |
MYH6 | 8 | Aug 15, 2018 |
MYH7 | 112 | Aug 16, 2018 |
MYL2 | 6 | Aug 15, 2018 |
MYL3 | 6 | Aug 15, 2018 |
MYL4 | 1 | Aug 15, 2018 |
MYLK2 | 3 | Aug 15, 2018 |
MYOM1 | 5 | Aug 15, 2018 |
MYOZ2 | 2 | Aug 15, 2018 |
MYPN | 9 | Aug 16, 2018 |
NDE1 | 2 | Aug 15, 2018 |
NEBL | 6 | Aug 16, 2018 |
NEXN | 6 | Aug 15, 2018 |
NKX2-5 | 7 | Aug 15, 2018 |
NOTCH1 | 1 | Aug 15, 2018 |
NSUN6 | 1 | Aug 15, 2018 |
PCSK9 | 3 | Aug 15, 2018 |
PDLIM3 | 4 | Aug 15, 2018 |
PKP2 | 18 | Aug 15, 2018 |
PLN | 3 | Aug 15, 2018 |
PLOD1 | 1 | Aug 15, 2018 |
PRDM16 | 2 | Aug 15, 2018 |
PRKAG2 | 16 | Aug 15, 2018 |
PTPN11 | 1 | May 6, 2016 |
RAF1 | 4 | Aug 15, 2018 |
RBM20 | 18 | Aug 15, 2018 |
RPL36A-HNRNPH2 | 6 | Aug 15, 2018 |
RYR1 | 2 | Aug 15, 2018 |
RYR2 | 39 | Aug 16, 2018 |
SCN10A | 7 | Aug 15, 2018 |
SCN1B | 2 | May 6, 2016 |
SCN4B | 1 | May 6, 2016 |
SCN5A | 40 | Aug 16, 2018 |
SDHA | 1 | Aug 15, 2018 |
SERPINC1 | 1 | Aug 15, 2018 |
SGCD | 2 | May 6, 2016 |
SHOC2 | 1 | Aug 15, 2018 |
SLC22A5 | 2 | Aug 15, 2018 |
SLC25A22 | 1 | May 6, 2016 |
SMAD3 | 2 | Aug 15, 2018 |
SNTA1 | 2 | Aug 15, 2018 |
SSUH2 | 1 | May 6, 2016 |
SYNE1 | 1 | May 6, 2016 |
TAF10 | 1 | Aug 15, 2018 |
TAZ | 1 | Aug 15, 2018 |
TCAP | 2 | May 6, 2016 |
TGFB2 | 1 | Aug 15, 2018 |
TGFB3 | 1 | Aug 15, 2018 |
TGFBR1 | 4 | Aug 15, 2018 |
TMEM43 | 4 | Aug 15, 2018 |
TMPO | 3 | Aug 15, 2018 |
TNNC1 | 5 | May 6, 2016 |
TNNI3 | 15 | Aug 16, 2018 |
TNNT2 | 27 | Aug 16, 2018 |
TPM1 | 16 | Aug 16, 2018 |
TRDN | 3 | Aug 15, 2018 |
TRPM4 | 3 | Aug 15, 2018 |
TTN | 43 | Aug 16, 2018 |
TTN-AS1 | 32 | Aug 16, 2018 |
TTR | 8 | Aug 15, 2018 |
VCL | 8 | Aug 15, 2018 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Long QT syndrome | 1 | Feb 23, 2015 |
not provided | 724 | Aug 16, 2018 |
not specified | 329 | Dec 20, 2016 |