National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program (National Institutes of Health), NIAID_CSP
General information
Personnel
- Rajarshi Ghosh, Contact
Phone: 6462178216
Email: rajarshi.ghosh@nih.gov - Colleen Jodarski, Contact
Phone: 301-761-7986
Email: colleen.jodarski@nih.gov - Morgan Similuk, Contact
Phone: 301-435-6691
Email: morgan.similuk@nih.gov
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 68
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AIRE | 32 | Sep 26, 2023 |
| APOB | 1 | May 28, 2022 |
| ATP7B | 2 | May 28, 2022 |
| BRCA1 | 2 | May 28, 2022 |
| BRCA2 | 5 | May 28, 2022 |
| DSC2 | 1 | May 28, 2022 |
| DSP | 1 | May 28, 2022 |
| FBN1 | 1 | May 28, 2022 |
| LDLR | 6 | May 28, 2022 |
| LOC107303340 | 1 | May 28, 2022 |
| MUTYH | 1 | May 28, 2022 |
| MYBPC3 | 2 | May 28, 2022 |
| MYH7 | 2 | May 28, 2022 |
| PALB2 | 1 | May 28, 2022 |
| PKP2 | 2 | May 28, 2022 |
| RYR1 | 3 | May 28, 2022 |
| SCN5A | 1 | May 28, 2022 |
| SMAD3 | 1 | May 28, 2022 |
| SMAD4 | 1 | May 28, 2022 |
| TGFBR2 | 2 | May 28, 2022 |
| VHL | 1 | May 28, 2022 |