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 | Oct 6, 2023 |
| BRCA2 | 55 | Oct 6, 2023 |
| 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 | Oct 3, 2023 |
| CDKN2A | 9 | Jul 15, 2012 |
| CEP85L | 1 | Mar 10, 2015 |
| CNGB3 | 1 | Sep 13, 2019 |
| CSRP3 | 2 | May 1, 2018 |
| CYP51A1 | 1 | Mar 10, 2015 |
| DES | 6 | May 1, 2018 |
| DSC2 | 19 | May 1, 2018 |
| DSG2 | 33 | May 1, 2018 |
| DSG2-AS1 | 12 | May 1, 2018 |
| DSP | 49 | May 1, 2018 |
| DSP-AS1 | 2 | Mar 10, 2015 |
| DTNA | 16 | Mar 10, 2015 |
| DTNA-AS1 | 1 | 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 |
| IFT38 | 2 | Sep 9, 2016 |
| 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 |
| KCNJ8-AS1 | 6 | Mar 10, 2015 |
| KCNK12 | 1 | Jul 15, 2012 |
| KCNQ1 | 10 | Dec 4, 2023 |
| 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 |
| LOC105370890 | 1 | May 1, 2018 |
| LOC105372791 | 4 | May 1, 2018 |
| LOC110121269 | 3 | May 1, 2018 |
| LOC110121486 | 3 | Mar 10, 2015 |
| LOC114827850 | 1 | May 1, 2018 |
| LOC114827851 | 6 | Mar 10, 2015 |
| LOC126806068 | 2 | Mar 10, 2015 |
| LOC126806420 | 5 | Mar 10, 2015 |
| LOC126806421 | 3 | Mar 10, 2015 |
| LOC126806422 | 6 | Mar 10, 2015 |
| LOC126806423 | 4 | Mar 10, 2015 |
| LOC126806424 | 5 | Mar 10, 2015 |
| LOC126806425 | 6 | Mar 10, 2015 |
| LOC126806426 | 5 | Mar 10, 2015 |
| LOC126806427 | 10 | Mar 10, 2015 |
| LOC126806428 | 8 | Mar 10, 2015 |
| LOC126806429 | 4 | Mar 10, 2015 |
| LOC126806430 | 6 | Mar 10, 2015 |
| LOC126806431 | 2 | Mar 10, 2015 |
| LOC126806432 | 17 | Mar 10, 2015 |
| LOC126806433 | 4 | Mar 10, 2015 |
| LOC126807136 | 6 | Mar 10, 2015 |
| LOC126807137 | 8 | Mar 10, 2015 |
| LOC126859766 | 1 | Mar 10, 2015 |
| LOC126861339 | 1 | Jul 15, 2012 |
| LOC126861538 | 2 | May 12, 2016 |
| LOC126861896 | 6 | Mar 10, 2015 |
| LOC126861897 | 2 | Mar 10, 2015 |
| LOC126861898 | 2 | Oct 29, 2024 |
| LOC126862571 | 9 | Jul 15, 2012 |
| LOC126862902 | 2 | Mar 1, 2016 |
| LOC129391106 | 2 | Mar 1, 2016 |
| LOC129935182 | 2 | Mar 10, 2015 |
| LOC129935183 | 4 | Mar 10, 2015 |
| LOC129935184 | 1 | Mar 10, 2015 |
| LOC129935185 | 1 | Mar 10, 2015 |
| LOC130065678 | 1 | Mar 10, 2015 |
| MEN1 | 6 | Jul 15, 2012 |
| MET | 24 | Oct 6, 2023 |
| MHRT | 4 | Mar 10, 2015 |
| MLH1 | 14 | Oct 3, 2023 |
| MSH2 | 15 | Jul 15, 2012 |
| MSH6 | 15 | Oct 6, 2023 |
| MUTYH | 19 | Jan 2, 2024 |
| MYBPC3 | 38 | Sep 13, 2019 |
| MYH6 | 39 | May 1, 2018 |
| MYH7 | 26 | Oct 29, 2024 |
| 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 |
| OXTR | 4 | Mar 10, 2015 |
| PDGFRA | 13 | Jul 15, 2012 |
| PKD1 | 1 | 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 | Nov 17, 2025 |
| 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 | Oct 29, 2024 |
| 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 |