Table 2.
Variant call | Number of variants (average per participant) |
---|---|
Pathogenic | 55 (0.8) |
Likely pathogenic | 95 (1.4) |
Variant of unknown significance (VUS) | 446 (6.4) |
Likely benign | 66 (0.9) |
Benign | 13 (0.2) |
Reviewed and not classifieda | 793 (11.3) |
aVariants were not classified if viewing the aligned reads suggested the variant was an artifact; if variants in that gene are expected to cause serious, highly penetrant disease at a young age and the participant did not have the associated phenotype (variants were only removed when the patient had a genotype that would be expected to cause disease were the variant pathogenic—i.e., homozygous for a recessive disease or heterozygous for a dominant disease); or if they were observed in >0.5% of a subpopulation in the ExAC or 1000 Genomes databases but passed the upstream MAF filter because the overall population MAF was <0.5%