ClinGen Cardiomyopathy Variant Curation Expert Panel, CMP-VCEP
FDA Recognized Database
General information
ClinGen Cardiomyopathy Variant Curation Expert Panel, CMP-VCEP
Bethesda
Maryland
United States - 20892
https://www.clinicalgenome.org/working-groups/clinical-domain/cardiovascular-clinical-domain-working-group/myh7-variant-curation-expert-panel/
Organization ID: 506161
Bethesda
Maryland
United States - 20892
https://www.clinicalgenome.org/working-groups/clinical-domain/cardiovascular-clinical-domain-working-group/myh7-variant-curation-expert-panel/
Organization ID: 506161
Expert panel documentation
Personnel
- Melissa Kelly, Coordinator
Phone: 570-214-3452
Email: makelly2@geisinger.edu
Assertion criteria
Level: Expert panel
Summary of submissions to ClinVar
Total submissions: 156
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| LOC126861897 | 10 | Dec 22, 2021 |
| LOC126861898 | 15 | Dec 22, 2021 |
| MHRT | 17 | Dec 22, 2021 |
| MYH7 | 156 | Dec 22, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cardiomyopathy | 63 | Dec 22, 2021 |
| Ebstein anomaly | 1 | Sep 8, 2021 |
| Hypertrophic cardiomyopathy | 75 | Dec 22, 2021 |
| Myosin storage myopathy | 1 | Sep 8, 2021 |
| Primary dilated cardiomyopathy | 15 | Dec 22, 2021 |
| Restrictive cardiomyopathy | 1 | Feb 25, 2019 |