Evidence criteria
Read the criteria, the evidence and the limits together
An automated ACMG/AMP result is reviewable only when the applied criteria remain connected to source evidence, availability states, provenance and the exact resolved variant identity.
For case-based VCF analysis and professional review, apply these criteria in the Folklore workflow.
Try the task
Explain the returned ACMG/AMP criteria for ENST00000226413.5:c.317A>G without inventing missing evidence.
Open public variant search to enter one supported GRCh38 germline SNV or simple indel in HGVS, SPDI, rsID or genomic notation. Single supported public queries are free; this does not mean unrestricted platform access or unlimited requests.
No account, API key or OAuth is required. Connect through https://api.helena.bio/folklore/v1/mcp or follow the connector guide.
Minimal call after connecting an MCP client:
{
"name": "search_variant_evidence",
"arguments": {
"assembly": "GRCh38",
"query": "NM_007294.4:c.68_69del"
}
}Already have a ClinVar, Ensembl or publication record?
Use the exact public HGVS, rsID or verified GRCh38 allele from the record, preserving transcript versions. A gene name, phenotype or paper title alone is not a variant identity. Folklore resolves the supported allele and returns automated classification with available evidence and provenance.
Read submitted ClinVar assertions separately from the automated classification. When publications are requested, use the verified identity for variant literature search; a paper association does not establish pathogenicity. Missing evidence and ambiguous identities remain explicit.
Evidence availability is part of the result
Available, unavailable and absent evidence are not synonyms. An agent should preserve the state returned by the tool and avoid converting a missing field into negative evidence.
- Report only criteria returned by the public contract.
- Cite source links and data versions when present.
- Do not reconstruct unpublished thresholds or implementation logic.
- Separate automated decision support from professional conclusion.
Framework reference
The ACMG/AMP sequence-variant interpretation framework is described by Richards et al., Standards and guidelines for the interpretation of sequence variants, doi:10.1038/gim.2015.30.
Public scientific boundary
Folklore Clinical Variant Interpretation MCP accepts public gene, disease and single-variant queries. Do not send patient, phenotype, family, segregation or private case data. Results are automated decision support for qualified professional review, not a diagnosis or treatment recommendation.
Using Folklore with your laboratory or research team?
Introduce your team if you would like help connecting your agents or a conversation about working together.
Introduce your teamOptional. Public variant interpretation remains available without an introduction.