ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel (ClinGen)
FDA Recognized Database
General information
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50037/
Organization ID: 509488
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50037/
Organization ID: 509488
Expert panel documentation
Personnel
- Pinar Bayrak-Toydemir, Contact
Phone: -
Email: [email protected] - Desiree DeMille, Contact
Phone: -
Email: [email protected] - Whitney Wooderchak-Donahue, Contact
Phone: -
Email: [email protected]
Assertion criteria
Level: Expert panel
Summary of submissions to ClinVar
Total submissions: 36
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACVRL1 | 16 | Apr 1, 2024 |
| ENG | 20 | Sep 19, 2024 |
| LOC102723566 | 9 | Sep 19, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Telangiectasia, hereditary hemorrhagic, type 1 | 20 | Sep 19, 2024 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 16 | Apr 1, 2024 |