Biesecker Lab/Clinical Genomics Section (National Institutes of Health)
General information
Biesecker Lab/Clinical Genomics Section
National Institutes of Health
Bethesda
Maryland
United States - 20892
http://www.genome.gov/10000356
Organization ID: 1160
National Institutes of Health
Bethesda
Maryland
United States - 20892
http://www.genome.gov/10000356
Organization ID: 1160
Personnel
- Director: Les Biesecker
- Leslie Biesecker, Medical Director
Phone: 301-402-2041
Email: lesb@mail.nih.gov - Jennifer Johnston, Lab Director
Phone: 301-594-3981
Email: jjohnsto@mail.nih.gov
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 2243
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABCC9 | 18 | Mar 10, 2015 |
ACTN2 | 19 | May 1, 2018 |
AKAP9 | 66 | Mar 10, 2015 |
AKT1 | 1 | Dec 23, 2019 |
ANK2 | 51 | Mar 10, 2015 |
ANKRD1 | 9 | May 1, 2018 |
APC | 44 | Jul 15, 2012 |
BAG3 | 18 | May 1, 2018 |
BBS10 | 1 | Sep 13, 2019 |
BMPR1A | 4 | Jul 15, 2012 |
BRCA1 | 38 | Jul 15, 2012 |
BRCA2 | 55 | Sep 13, 2019 |
CACNA1C | 24 | Mar 10, 2015 |
CACNA1C-AS1 | 14 | Mar 10, 2015 |
CACNB2 | 19 | Mar 10, 2015 |
CALR3 | 5 | Mar 10, 2015 |
CASQ2 | 12 | May 1, 2018 |
CAV3 | 4 | Mar 10, 2015 |
CDC73 | 1 | Jul 15, 2012 |
CDH1 | 6 | Jul 15, 2012 |
CDKN2A | 9 | Jul 15, 2012 |
CEP85L | 1 | Mar 10, 2015 |
CLUAP1 | 2 | Sep 9, 2016 |
CNGB3 | 1 | Sep 13, 2019 |
CSRP3 | 2 | May 1, 2018 |
DES | 6 | May 1, 2018 |
DSC2 | 18 | May 1, 2018 |
DSG2 | 33 | May 1, 2018 |
DSG2-AS1 | 12 | May 1, 2018 |
DSP | 49 | May 1, 2018 |
DTNA | 16 | Mar 10, 2015 |
EYA4 | 16 | Mar 10, 2015 |
FH | 5 | Jul 15, 2012 |
FLCN | 10 | Jul 15, 2012 |
GPD1L | 7 | Mar 10, 2015 |
HCN4 | 15 | May 1, 2018 |
JPH2 | 4 | Mar 10, 2015 |
JUP | 13 | Mar 10, 2015 |
KCNA5 | 14 | Mar 10, 2015 |
KCNE1 | 7 | May 1, 2018 |
KCNE2 | 4 | May 1, 2018 |
KCNE3 | 3 | Mar 10, 2015 |
KCNH2 | 17 | May 1, 2018 |
KCNJ2 | 2 | Mar 10, 2015 |
KCNK12 | 1 | Jul 15, 2012 |
KCNQ1 | 10 | Sep 13, 2019 |
KCNQ1-AS1 | 2 | Sep 13, 2019 |
KIT | 10 | Jul 15, 2012 |
LAMA4 | 38 | Mar 10, 2015 |
LAMA4-AS1 | 1 | Mar 10, 2015 |
LDB3 | 23 | Mar 10, 2015 |
LDLR | 1 | Sep 13, 2019 |
LIPT2 | 1 | Mar 10, 2015 |
LMNA | 7 | Mar 10, 2015 |
LOC100507346 | 5 | Jul 15, 2012 |
LOC101927055 | 14 | Mar 10, 2015 |
LOC110121269 | 3 | May 1, 2018 |
LOC110121486 | 3 | Mar 10, 2015 |
LOC114827850 | 1 | May 1, 2018 |
LOC114827851 | 6 | Mar 10, 2015 |
MEN1 | 6 | Jul 15, 2012 |
MET | 24 | Jul 15, 2012 |
MHRT | 4 | Mar 10, 2015 |
MLH1 | 14 | Jul 15, 2012 |
MSH2 | 15 | Jul 15, 2012 |
MSH6 | 15 | Sep 13, 2019 |
MUTYH | 19 | Jul 15, 2012 |
MYBPC3 | 38 | Sep 13, 2019 |
MYH6 | 39 | May 1, 2018 |
MYH7 | 26 | May 1, 2018 |
MYL2 | 5 | May 1, 2018 |
MYLK2 | 11 | Mar 10, 2015 |
MYO1A | 6 | May 12, 2016 |
MYOZ2 | 6 | Mar 10, 2015 |
MYPN | 32 | Mar 10, 2015 |
NAA10 | 3 | Jan 23, 2019 |
NF1 | 13 | Jul 15, 2012 |
NF2 | 1 | Jul 15, 2012 |
NSUN6 | 12 | Mar 10, 2015 |
PDGFRA | 13 | Jul 15, 2012 |
PKP2 | 32 | Mar 10, 2015 |
PLN | 1 | Mar 10, 2015 |
PMS2 | 26 | Sep 13, 2019 |
PSEN1 | 5 | May 1, 2018 |
PSEN2 | 12 | Mar 10, 2015 |
PTCH1 | 20 | Jul 15, 2012 |
PTEN | 1 | Jul 15, 2012 |
RB1 | 3 | Jul 15, 2012 |
RET | 16 | Sep 13, 2019 |
RYR1 | 78 | Mar 1, 2016 |
RYR2 | 38 | May 1, 2018 |
SCN1B | 6 | Feb 24, 2020 |
SCN2B | 3 | Mar 10, 2015 |
SCN3B | 3 | May 1, 2018 |
SCN4B | 5 | May 1, 2018 |
SCN5A | 35 | Sep 13, 2019 |
SDHAF2 | 2 | Jul 15, 2012 |
SDHB | 5 | Sep 13, 2019 |
SDHC | 5 | Jul 15, 2012 |
SDHD | 3 | Jul 15, 2012 |
SGCB | 1 | Sep 13, 2019 |
SGCD | 8 | Mar 10, 2015 |
SMAD4 | 2 | Jul 15, 2012 |
SMARCB1 | 1 | Jul 15, 2012 |
SNTA1 | 12 | Mar 10, 2015 |
TARID | 4 | Mar 10, 2015 |
TCAP | 6 | Mar 10, 2015 |
TGFB3 | 3 | Mar 10, 2015 |
TMEM43 | 17 | Mar 10, 2015 |
TMPO | 27 | Mar 10, 2015 |
TNNC1 | 1 | May 1, 2018 |
TNNI3 | 1 | Mar 10, 2015 |
TNNT2 | 5 | Mar 10, 2015 |
TP53 | 2 | Jul 15, 2012 |
TPM1 | 2 | Mar 10, 2015 |
TSC1 | 16 | Jul 15, 2012 |
TSC2 | 27 | Jul 15, 2012 |
TTN | 769 | May 1, 2018 |
TTN-AS1 | 386 | Mar 10, 2015 |
VCL | 19 | May 1, 2018 |
VHL | 1 | Jul 15, 2012 |
WT1 | 1 | Jul 15, 2012 |