Fig. 1.

Rule-Based Algorithm Used to Classify Variants. ^#No classification discrepancies were identified for variants falling into this category (not previously seen at GeneDx but in ClinVar). ^{^}Variants requiring manual review were not classified based on strict ACMG criteria as is done for variants that were clinically reported. Variants were classified as either a PV, which includes variants that would meet criteria for a pathogenic or likely pathogenic classification, or not a PV. Variants determined to be not a PV were not worked up further to determine if they would be classified as variant of uncertain significance, likely benign, or benign. ^*NGS data manually assessed to ensure variant was real. Default as real if it was determined that the variant in question could not be confidently called real or not real based on NGS data. NMD = nonsense mediated decay