ClinGen Congenital Myopathies Variant Curation Expert Panel (ClinGen)
FDA Recognized Database
General information
ClinGen Congenital Myopathies Variant Curation Expert Panel
ClinGen
Bethesda
Maryland
United States - 20892
https://www.clinicalgenome.org/affiliation/50031/
Organization ID: 509715
ClinGen
Bethesda
Maryland
United States - 20892
https://www.clinicalgenome.org/affiliation/50031/
Organization ID: 509715
Expert panel documentation
Personnel
- Marina DiStefano, Coordinator
Phone: 6177688555
Email: [email protected]
Assertion criteria
Level: Expert panel
Summary of submissions to ClinVar
Total submissions: 47
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| DNM2 | 12 | Oct 1, 2024 |
| LOC126862902 | 2 | Oct 2, 2024 |
| LOC130063529 | 1 | Oct 1, 2024 |
| MTM1 | 13 | Oct 1, 2024 |
| NEB | 10 | Oct 1, 2024 |
| RIF1 | 2 | Oct 1, 2024 |
| RYR1 | 12 | Oct 2, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Centronuclear myopathy | 23 | Oct 1, 2024 |
| Nemaline myopathy | 10 | Oct 1, 2024 |
| RYR1-related myopathy | 12 | Oct 2, 2024 |
| Severe X-linked myotubular myopathy | 2 | Oct 1, 2024 |