Clingen Pulmonary Hypertension Variant Curation Expert Panel (ClinGen)
FDA Recognized Database
General information
Clingen Pulmonary Hypertension Variant Curation Expert Panel
ClinGen
Bethesda
Maryland
United States - 20892
https://www.clinicalgenome.org/affiliation/50071/
Organization ID: 509552
ClinGen
Bethesda
Maryland
United States - 20892
https://www.clinicalgenome.org/affiliation/50071/
Organization ID: 509552
Expert panel documentation
Personnel
- Carrie Welch, Variant scientist/curator
Phone: 914-645-5121
Email: cbw13@columbia.edu
Assertion criteria
Level: Expert panel
Summary of submissions to ClinVar
Total submissions: 48
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| BMPR2 | 48 | Sep 27, 2024 |
| LOC129935434 | 1 | May 9, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Pulmonary arterial hypertension | 48 | Sep 27, 2024 |