From: Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
VCEP | Replication | Controls | Thresholds | Validation | Possible PS3 evidence levels |
---|---|---|---|---|---|
CDH1 | ✓ | ✓ | Strong, supporting | ||
Hearing Loss | ✓ | ✓ | Moderate, supporting | ||
Inherited Cardiomyopathy (MHY7) | ✓ | Strong | |||
PAH | ✓ | Strong | |||
PTEN | ✓ | ✓ | ✓ | Strong, supporting | |
RASopathy | ✓ | Strong |