Fig. 2

Characteristics of the 9,050 variants included in this study. A Summary of classification of the 9,050 variants included in this study. B Further classification of VUS to hot, warm, tepid, cool, cold, and ice-cold groups, according to the ACGS Best Practice Guidelines. “Cool/cold/ice cold” variants were defined as benign leaning VUS (BL-VUS), while “hot/warm/tepid” variants were defined as pathogenic leaning VUS (PL-VUS). C Distribution of variants by functional impact. D Distribution of P/LP variants across the top twenty genes. E and F Distribution of variant allele frequency in cases and controls