Variant Classification Is an Evidence Claim
Explain variant classification as a structured evidence judgment.
Variant categories are not personality labels for DNA. They are evidence judgments that connect a specific variant to a specific clinical context. Evidence Moves the Category Population frequency can argue against a rare severe Mendelian disease. Segregation and de novo evidence can support causality. Functional evidence can help when the assay reflects the disease mechanism. Computational prediction alone is usually not enough. Context Controls Meaning A classification needs a gene, a condition, an inheritance model, and a report date. A variant may be pathogenic for one disorder, irrelevant to another, or reclassified when new evidence arrives. Action Follows Certainty Pathogenic…
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