Table 1. Example of genomic variant sharing.

	Variant 1	Variant 2
Variant	Standardised description of variant, including genomic coordinates	Standardised description of variant, including genomic coordinates
Gene	e.g. MYH7	e.g. MYH7
Genotype	Heterozygous	Heterozygous
Phenotype	Hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy
ACMG/AMP variant-level evidence ⁵⁵	PS1 – a different variant at the same position has previously been established to be pathogenic PM1 – occurs in the head of the protein (a functional domain with high probability pathogenicity) PM2 – absent from the general population PP3 – computational evidence suggests deleterious effect on gene product	PM1 – occurs in the head of the protein (a functional domain with high probability pathogenicity) PM2 – absent from the general population PP3 – computational evidence suggests deleterious effect on gene product
Interpretation (based on public data)	Likely pathogenic	Variant of uncertain significance
Aggregated case-level evidence	Observed in 1/10,000 individuals referred with diagnosis of HCM	Lab A – variant observed in 2/3,000 total cardiomyopathy patients sequenced Lab B – 2/4,000 Lab C – 1/3,000 Lab D – 1/1,000 patients
Interpretation (with variant sharing)	Likely pathogenic	Likely pathogenic