Variant Interpretation and Reporting
Pathogenic or likely pathogenic variants were reported only when biologically consistent with phenotype and validated using independent DNA. Only pathogenic or likely pathogenic variants will be returned as additional medically actionable…
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Pathogenic or likely pathogenic variants were reported only when biologically consistent with phenotype and validated using independent DNA. Only pathogenic or likely pathogenic variants will be returned as additional medically actionable findings. Diagnostic SNVs and indels were prioritized using allele frequency, inheritance, phenotype matching, and virtual disease panels. Participants received pretest genetic counseling and written informed consent under a three-tier consent and assent model. HKGI developed an opt-in return plan for additional medically actionable dominant findings in 13 genes.