ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, CMP-EP
FDA Recognized Database
General information
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, CMP-EP
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
- Birgit Funke, Lab Director
Phone: 6177688467
Email: bfunke@bwh.harvard.edu
Assertion criteria
Level: Expert panel
Summary of submissions to ClinVar
Total submissions: 102
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cardiomyopathy | 54 | Feb 25, 2019 |
| Ebstein anomaly of the tricuspid valve | 1 | Feb 25, 2019 |
| Hypertrophic cardiomyopathy | 37 | Feb 25, 2019 |
| Primary dilated cardiomyopathy | 9 | Feb 25, 2019 |
| Restrictive cardiomyopathy | 1 | Feb 25, 2019 |