ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel (ClinGen), LSD VCEP
FDA Recognized Database
General information
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel, LSD VCEP
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50009/
Organization ID: 507522
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50009/
Organization ID: 507522
Personnel
- Jennifer Goldstein, Contact
Phone: 919 966 5705
Email: jennifer.goldstein@unc.edu - Catherine Rehder, Contact
Phone: 919 613 8434
Email: catherine.rehder@duke.edu
Assertion criteria
Level: Expert Panel
Summary of submissions to ClinVar
Total submissions: 287
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Glycogen storage disease, type II | 287 | Apr 4, 2024 |