Pathogenic, Benign, or Uncertain: How a Variant Gets Its Verdict — and What Each Verdict Licenses
A clinician's guide to reading the classification column on a genomic report: what dbSNP, gnomAD and ClinVar each contribute, why a variant of uncertain significance must never drive management, and how to explain penetrance to a patient who has just been called 'pathogenic'.
About This Tutorial
A clinician's guide to reading the classification column on a genomic report: what dbSNP, gnomAD and ClinVar each contribute, why a variant of uncertain significance must never drive management, and how to explain penetrance to a patient who has just been called 'pathogenic'.
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