Table 2.

Variant classifications

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%