Folklore

Variant evidence review

Report invalid variant expressions before evidence retrieval

A malformed coordinate, accession or allele cannot safely identify a variant. An agent must preserve the invalid state, explain which identity element is missing or malformed and request a corrected public expression.

Agent question

Is this expression syntactically complete enough to identify one public GRCh38 variant?

Do not repair by guesswork

Do not insert a likely transcript version, chromosome, reference allele or alternate allele. A familiar gene or variant name is not permission to substitute a different identity.

  • Echo the submitted expression
  • Preserve the declared assembly
  • Report the invalid state
  • Request exact HGVS, SPDI, rsID or GRCh38 coordinates
  • Call evidence tools only after a valid public expression is available

Keep validation separate from classification

A validation failure contains no ACMG/AMP conclusion. It must not be converted into not found, benign or unavailable evidence.

Public references

Clinical and data boundary

Folklore Clinical Variant Interpretation MCP is published by Helena Bioinformatics. It accepts public variant-level queries only, not patient, phenotype, family, segregation or private case data. Its results are automated decision support for qualified professional review, not a diagnosis or treatment recommendation.