Center for Statistical Genetics (Columbia University), CSG
General information
Personnel
- Suzanne Leal, Principal Investigator
Phone: (212) 305-2500
Email: [email protected] - Anushree Acharya, Staff
Phone: (212) 305-2500
Email: [email protected] - Thashi Bharadwaj, Staff
Phone: (212) 305-2500
Email: [email protected] - Isabelle Schrauwen, Principal Investigator
Phone: 7136986844
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 173
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACTB | 1 | Oct 19, 2020 |
| ADAMTS1 | 1 | Feb 5, 2021 |
| ANKLE2 | 1 | Jun 23, 2020 |
| ARX | 1 | Oct 19, 2020 |
| BCL11A | 2 | Dec 18, 2023 |
| BMP2 | 1 | Sep 12, 2019 |
| CABP2 | 1 | May 18, 2021 |
| CDH23 | 2 | Sep 10, 2018 |
| CDK13 | 1 | Jan 15, 2021 |
| CHAMP1 | 1 | Oct 19, 2020 |
| CHSY1 | 1 | Sep 12, 2019 |
| CLCNKA | 1 | Sep 10, 2018 |
| COL7A1 | 1 | Sep 30, 2024 |
| COL9A2 | 1 | Oct 19, 2020 |
| CRADD | 2 | Oct 19, 2020 |
| CTBP1 | 1 | Oct 19, 2020 |
| CYFIP2 | 2 | May 3, 2023 |
| DDX23 | 1 | Dec 1, 2023 |
| DDX47 | 1 | Oct 19, 2020 |
| DNAH3 | 1 | Oct 19, 2020 |
| DYNC1H1 | 1 | Oct 19, 2020 |
| EFCAB7 | 2 | Mar 14, 2023 |
| EPS8 | 1 | Sep 10, 2018 |
| GJB2 | 3 | Nov 22, 2018 |
| GPSM2 | 1 | Sep 10, 2018 |
| GREB1L | 4 | May 29, 2020 |
| GRXCR1 | 1 | Sep 10, 2018 |
| HECW2 | 14 | Mar 17, 2021 |
| HNRNPK | 1 | Oct 19, 2020 |
| HUWE1 | 1 | Oct 19, 2020 |
| IL1RAPL1 | 1 | Dec 21, 2020 |
| ILDR1 | 1 | Sep 10, 2018 |
| ITPR2 | 1 | Oct 19, 2020 |
| KIAA0825 | 2 | Jan 15, 2019 |
| KIF1B | 2 | Oct 19, 2020 |
| KPTN | 1 | Mar 28, 2023 |
| LAMB1 | 2 | Oct 19, 2020 |
| LMX1A | 2 | Mar 24, 2018 |
| LOC101927521 | 3 | May 29, 2020 |
| LOC102724058 | 1 | Jan 28, 2021 |
| LOC105371566 | 9 | Jun 6, 2016 |
| LOC106501712 | 1 | Sep 10, 2018 |
| LOC110120893 | 1 | Oct 19, 2020 |
| LOC122152296 | 1 | Nov 22, 2018 |
| LOC126805614 | 1 | Oct 19, 2020 |
| MANBA | 1 | Sep 12, 2019 |
| MAP3K1 | 1 | Sep 12, 2019 |
| MARVELD2 | 1 | Sep 10, 2018 |
| MEA1 | 1 | Oct 19, 2020 |
| MECP2 | 1 | Oct 19, 2020 |
| MED12 | 1 | Oct 19, 2020 |
| MPDZ | 1 | Jan 27, 2021 |
| MVD | 1 | Jan 27, 2021 |
| MYH9 | 1 | Nov 22, 2018 |
| MYO15A | 9 | Jun 6, 2016 |
| MYO7A | 8 | Nov 22, 2018 |
| MYT1 | 1 | Oct 19, 2020 |
| NFIA | 1 | Dec 18, 2023 |
| NTRK1 | 1 | Oct 19, 2020 |
| NUS1 | 1 | Dec 1, 2023 |
| OPHN1 | 1 | Dec 18, 2023 |
| OTOF | 2 | Sep 10, 2018 |
| OTOG | 1 | Sep 10, 2018 |
| P4HTM | 1 | Oct 19, 2020 |
| PCDH15 | 1 | Oct 27, 2017 |
| PHF8 | 1 | Dec 18, 2023 |
| PJVK | 3 | Sep 10, 2018 |
| PLS1 | 1 | Sep 12, 2019 |
| POLR2F | 1 | Oct 19, 2020 |
| PPP2R5D | 1 | Oct 19, 2020 |
| PSAP | 1 | May 28, 2021 |
| PTPRQ | 2 | Sep 10, 2018 |
| PTPRS | 2 | Sep 12, 2019 |
| RAI1 | 1 | Oct 19, 2020 |
| SAMD9L | 1 | Oct 19, 2020 |
| SCN1A | 3 | Jan 28, 2021 |
| SCN3A | 1 | Dec 1, 2023 |
| SEZ6 | 1 | Jan 27, 2021 |
| SLC26A4 | 4 | Sep 10, 2018 |
| SLC26A4-AS1 | 2 | Sep 10, 2018 |
| SON | 2 | Dec 18, 2023 |
| STX4 | 1 | Apr 18, 2022 |
| SYPL1 | 1 | Oct 19, 2020 |
| TBCEL-TECTA | 1 | Sep 10, 2018 |
| TCTN3 | 1 | Feb 27, 2020 |
| TECTA | 1 | Sep 10, 2018 |
| THBS1 | 2 | Feb 29, 2024 |
| TMC1 | 4 | Sep 10, 2018 |
| TRIO | 1 | Oct 19, 2020 |
| TUBA1A | 1 | Dec 1, 2023 |
| TUBB2B | 1 | Dec 1, 2023 |
| UBA7 | 1 | Oct 19, 2020 |
| USH1G | 5 | Nov 22, 2018 |
| USH2A | 3 | Nov 22, 2018 |
| USH2A-AS1 | 1 | Sep 10, 2018 |
| VPS13B | 1 | Aug 23, 2022 |
| WFS1 | 1 | Dec 1, 2023 |
| WHRN | 1 | Sep 10, 2018 |
| ZC3H14 | 1 | Oct 19, 2020 |
| ZFR | 1 | Oct 19, 2020 |
| ZKSCAN1 | 1 | Oct 19, 2020 |