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Table 2 Summary of PS3/BS3 assay parameter specifications and strength modification recommendations by each Variant Curation Expert Panel (VCEP)

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