Six initial VCEPs that published disease- and gene-specific adaptations to the ACMG/AMP guidelines (CDH1, Hearing Loss, Inherited Cardiomyopathy-MYH7, PAH, PTEN, and RASopathy [4–9]) span multiple conditions with different underlying, well-known disease mechanisms; thus, diverse categories of functional assays (biochemical function, protein interaction, expression, model system, etc.)have been applied to test variants in the associated genes. Here, PTEN is linked to pulmonary arterial hypertension.