TABLE 1.

Sherloc evidence codes and points awarded for variants observed in individuals who meet highly or moderately predictive phenotype criteria

Predictive category	Sherloc evidence code	Evidence description	Pathogenic points awarded in Sherloc	Corresponding ACMG criteria category
Moderate	EV0228	Variant previously identified in one individual with moderately predictive phenotype evidence	0	None
Moderate	EV0081	Variant previously identified in two individuals with moderately predictive phenotype evidence	1	PS4
Moderate	EV0080	Variant previously identified in three individuals with moderately predictive phenotype evidence	2	PS4
Moderate	EV0079	Variant previously identified in four individuals with moderately predictive phenotype evidence	3	PS4
High	EV0169	In an AD gene, a rare heterozygous or hemizygous variant in one individual with highly predictive phenotype evidence	2	PP4
High	EV0155	In an AR gene, a rare heterozygous variant co‐occurring with heterozygous VUS in one individual with highly predictive phenotype evidence	1	PP4
High	EV0154	In an AR gene, a rare heterozygous variant co‐occurring with P/LP variant in same gene in one individual with highly predictive phenotype evidence	1.5	PP4
High	EV0153	In an AR gene, a rare homozygous variant in one individual with highly predictive phenotype evidence	2	PP4

Note: AD gene, a gene associated with a condition with autosomal dominant inheritance. AR gene, a gene associated with a condition with autosomal recessive inheritance.