Rules implemented exactly as in Table 5 of Richards et al. 2015. A variant meeting both a pathogenic tier (P/LP) and a benign tier (B/LB) is reported as VUS because the criteria are contradictory. ClinGen SVI has since recommended retiring PP5 and BP6 (Biesecker & Harrison 2018) and applying PM2 at supporting strength.
For research and education only. Final variant interpretation needs review by a qualified clinical scientist using gene-specific (VCEP) specifications where available.