ClinVar
General information
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 1188
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACVRL1 | 2 | Jan 2, 2013 |
| ADAR | 8 | Jun 27, 2013 |
| ADD3 | 1 | Jun 17, 2016 |
| ALB | 19 | Sep 6, 2012 |
| APOC3 | 4 | Jul 2, 2014 |
| AQP2 | 1 | Mar 17, 2010 |
| AQP5-AS1 | 1 | Mar 17, 2010 |
| ATM | 1 | Jan 2, 2013 |
| ATP7B | 6 | Mar 16, 2011 |
| ATRX | 1 | Mar 18, 2012 |
| B3GALNT2 | 4 | Jun 27, 2013 |
| BEST1 | 3 | Jul 31, 2024 |
| BRCA1 | 264 | Mar 30, 2013 |
| BRCA2 | 180 | Mar 30, 2013 |
| C11orf65 | 1 | Jan 2, 2013 |
| CACNA1S | 1 | Oct 27, 2010 |
| CFTR | 440 | Mar 30, 2013 |
| CFTR-AS1 | 26 | Mar 30, 2013 |
| CNGA3 | 1 | Mar 20, 2012 |
| COL5A1 | 1 | Jul 13, 2022 |
| COL7A1 | 1 | Sep 16, 2008 |
| CRYGC | 1 | Jun 13, 2024 |
| CSRP3 | 1 | Jan 2, 2013 |
| DYNC1H1 | 1 | Jul 22, 2015 |
| EGFR | 5 | Jun 27, 2013 |
| EGFR-AS1 | 1 | Jun 27, 2013 |
| EPB42 | 2 | Nov 10, 2016 |
| ESR1 | 2 | Dec 4, 2014 |
| F7 | 1 | Jun 5, 2024 |
| FAAH | 1 | Jul 11, 2024 |
| FAM111A | 5 | Jun 27, 2013 |
| FGFR2 | 1 | Jul 10, 2016 |
| FOXJ1 | 1 | Jul 29, 2024 |
| GALC | 1 | Jun 27, 2013 |
| GALT | 1 | Mar 3, 2014 |
| GAN | 1 | Oct 14, 2021 |
| GJB2 | 1 | Jul 30, 2024 |
| GLRA1 | 1 | Jun 9, 2012 |
| HARS2 | 2 | Jun 27, 2013 |
| HBB | 1 | Jan 2, 2013 |
| HLA-B | 1 | Nov 13, 2012 |
| HYCC1 | 1 | Jun 9, 2008 |
| IGH | 2 | Jan 2, 2013 |
| IGHM | 2 | Jan 2, 2013 |
| IRF2BP2 | 1 | Jun 4, 2024 |
| KCNQ1 | 30 | Mar 30, 2013 |
| KCNQ1-AS1 | 1 | Mar 30, 2013 |
| KCNQ1OT1 | 2 | Mar 30, 2013 |
| KCNQ4 | 18 | May 10, 2018 |
| KRAS | 1 | Jun 9, 2012 |
| LMO1 | 1 | Jul 8, 2024 |
| LOC100507443 | 1 | Jun 13, 2024 |
| LOC107133510 | 1 | Jan 2, 2013 |
| LOC108281177 | 1 | Jul 29, 2024 |
| LOC110006319 | 1 | Jan 2, 2013 |
| LOC111674472 | 44 | Mar 30, 2013 |
| LOC111674475 | 15 | Mar 30, 2013 |
| LOC111674477 | 2 | Mar 30, 2013 |
| LOC113664106 | 7 | Mar 30, 2013 |
| LOC126805874 | 3 | Jun 27, 2013 |
| LOC126862571 | 39 | Mar 30, 2013 |
| LOC129391064 | 4 | Aug 25, 2015 |
| LOC129930282 | 1 | May 10, 2018 |
| LOC129932812 | 1 | Jun 4, 2024 |
| LOC130005740 | 1 | Jun 27, 2013 |
| LOC130063648 | 1 | Aug 25, 2015 |
| MAN2B1 | 41 | Jul 15, 2024 |
| MECP2 | 3 | May 29, 2024 |
| MED25 | 1 | Apr 30, 2013 |
| MMAB | 1 | Dec 21, 2016 |
| MMP2 | 1 | Oct 27, 2010 |
| MT-ND3 | 1 | Jul 29, 2024 |
| MVK | 1 | Dec 21, 2016 |
| MYH11 | 1 | Jan 2, 2013 |
| MYPN | 15 | Jun 27, 2013 |
| NAGLU | 1 | Mar 24, 2016 |
| NEFL | 1 | Apr 30, 2013 |
| NOTCH3 | 1 | Mar 3, 2014 |
| PACS1 | 1 | Jun 27, 2013 |
| PAX2 | 11 | Sep 4, 2012 |
| PAX8 | 1 | Oct 27, 2010 |
| PAX8-AS1 | 1 | Oct 27, 2010 |
| PECAM1 | 1 | Jan 2, 2013 |
| PEX1 | 1 | Jan 22, 2013 |
| POFUT1 | 1 | Jul 11, 2024 |
| POU3F4 | 1 | Jan 2, 2013 |
| PRKAG3 | 10 | Jun 27, 2013 |
| PSEN1 | 1 | Apr 24, 2024 |
| PTCH1 | 2 | Jul 29, 2024 |
| PTPRQ | 2 | Jan 2, 2013 |
| PYGM | 1 | Jan 2, 2013 |
| RBP3 | 39 | Jun 27, 2013 |
| RHCE | 2 | Jan 2, 2013 |
| SACS | 2 | Feb 27, 2012 |
| SCG5 | 1 | Mar 3, 2014 |
| SCN1A | 1 | Nov 19, 2020 |
| SLC45A2 | 1 | Jan 22, 2013 |
| SOX2 | 1 | Jul 29, 2024 |
| SOX2-OT | 1 | Jul 29, 2024 |
| SPAST | 1 | Jul 30, 2024 |
| SPTLC2 | 1 | Jun 27, 2013 |
| STAT3 | 1 | Apr 29, 2011 |
| TMEM70 | 1 | Oct 27, 2010 |
| USB1 | 1 | May 20, 2011 |
| VWF | 1 | Jul 28, 2011 |
| ZNF141 | 1 | Jun 27, 2013 |