domains / families / science / folklore-variant-evidence

folklore-variant-evidence

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Retrieves ClinGen gene-disease validity assertions for a public gene or disease, and reviews source-linked public evidence and literature for one supported GRCh38 germline nuclear SNV or simple indel through Folklore Clinical Variant Interpretation MCP. Used when a scientific agent must branch deterministically on resolved, ambiguous, not-found, invalid, unsupported, or unavailable variant outcomes; chain a resolved public variant into related literature or publication details; or preserve evidence provenance without accepting patient, phenotype, family, segregation, or private case data.

When to use

• Retrieving ClinGen gene-disease validity assertions
• Reviewing source-linked public evidence for one variant
• Handling resolved, ambiguous, not-found, invalid, unsupported, or unavailable variant outcomes
• Chaining a resolved public variant into related literature or publication details
• Preserving evidence provenance
• Retrieving structured public variant evidence
• Automated variant-level ACMG/AMP decision support

When not to use

• VCF annotation
• Batch processing
• Somatic variants
• Structural variants
• Polygenic scores
• Patient-specific interpretation
• Accepting patient, phenotype, family, segregation, or private case data

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