Documentation / Variant Analysis / Conflicting Evidence
Conflicting Evidence in Variant Analysis
Contradictory evidence is not reduced to an unqualified score. Folklore evaluates evidence authority, variant context, and the direction and strength of the competing criteria before a final class is displayed.
Decision Order
Expert-panel evidence
Applicable ClinGen expert-panel P/LP assertions are handled through an authority-specific path and remain visible in the evidence provenance.
Risk-allele safety path
An established risk allele is not treated as a conventional Mendelian Pathogenic result. It is held in a reviewable uncertain state with source context.
Stand-alone benign evidence
BA1 can support Benign when its population premise is met, but observed Strong or Very Strong pathogenic evidence prevents a silent stand-alone resolution.
Pathogenic versus benign conflict
Moderate-or-stronger pathogenic evidence opposed by Strong benign evidence is held at VUS for review.
Remaining evidence profiles
If no higher-priority path applies, the standard combining rules and additional safety guards determine the result.
Review the source evidence
A VUS produced by a conflict is an explicit safety outcome, not an absence of analysis. Reviewers should examine population evidence, assertion provenance, phenotype fit, inheritance, assay quality, and whether the evidence applies to the same disease mechanism.