Table 1.

Performance of PM5 pathogenic (top) and benign (bottom) analysis for co-localising clinically annotated variants

Shading in the LR+ and points columns indicates the strength reached for classification purposes according to Tavtigian et al. (2018) and Tavtigian et al. (2020) (red = strong; amber = moderate). PFam only ClinVar missense variants in PFam domains, PATH Number of pathogenic variants, BEN Number of benign variants, TP True positive, FN False negative, TN True negative, FP False positive, SENS Sensitivity, SPEC Specificity, PPV Positive predictive value, LR+  Positive likelihood ratio, UNIQUE Number of position with only a single variant or no co-localising variants, CONF Positions with conflicting classifications