ClinGen VHL Variant Curation Expert Panel (ClinGen)
FDA Recognized Database
General information
ClinGen VHL Variant Curation Expert Panel
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50036/
Organization ID: 509654
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50036/
Organization ID: 509654
Expert panel documentation
Personnel
- Raymond Kim, Contact
Phone: (416) 946-4501
Email: raymond.kim@uhn.ca - Deborah Ritter, Coordinator
Phone: (713) 798-4951
Email: dritter@bcm.edu
Assertion criteria
Level: Expert panel
Summary of submissions to ClinVar
Total submissions: 31
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| LOC107303340 | 15 | Aug 8, 2024 |
| VHL | 31 | Aug 8, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Von Hippel-Lindau syndrome | 31 | Aug 8, 2024 |