Documentation / Variant Analysis / ClinVar and ClinGen
ClinVar and ClinGen Evidence in Variant Analysis
Folklore treats public assertions as structured evidence with provenance, not as a single unquestioned answer. Assertion type, review status, source authority, disease context, and conflicts determine how an assertion can contribute.
Three Roles
Criterion evidence
Eligible exact-match assertions can support ACMG evidence codes. Source-quality requirements differ by evidence strength.
Bounded classification path
Eligible ClinVar classifications can determine the class only after higher-priority conflict and safety checks have been evaluated.
Expert-panel provenance
Applicable ClinGen VCEP assertions and specifications are identified separately so their authority and version remain visible.
Review Status
ClinVar review stars summarize the level of review, from submissions without assertion criteria through expert-panel and practice-guideline review. They are an authority signal, not a guarantee that an assertion is current or correct. Folklore records the review status and applies minimum quality requirements to the evidence path.
When an Assertion Does Not Decide the Class
The assertion is a VUS or another non-decisive category.
The review status does not meet the required evidence level.
Pathogenic and benign evidence conflict.
The assertion does not apply to the relevant disease or mechanism.
The record represents a risk allele rather than a conventional Mendelian classification.
A higher-authority, variant-specific expert-panel interpretation applies.
Versioned evidence
ClinVar and ClinGen content changes over time. Folklore processes governed local reference releases and exposes source identifiers and review context so a result can be interpreted against the evidence available to that classifier release.