What does this variant mean? Review its identity and evidence

Observed public results: 10 September 2026

These publisher-run snapshots preserve automated results, not clinical conclusions. Classifier 3.39.1 reported ClinVar 2026-01, gnomAD 4.1 and Ensembl VEP Release 113. Source assertions and automated classification remain separate. No record is different from evidence against pathogenicity.

{
  "name": "search_variant_evidence",
  "arguments": {
    "assembly": "GRCh38",
    "query": "NM_007294.4:c.68_69del"
  }
}

{
  "name": "search_variant_evidence",
  "arguments": {
    "assembly": "GRCh38",
    "query": "ENST00000226413.5:c.317A>G"
  }
}

{
  "name": "search_variant_evidence",
  "arguments": {
    "assembly": "GRCh38",
    "query": "GRCh38:chr17:43124027:ACT:A"
  }
}

{
  "name": "search_variant_evidence",
  "arguments": {
    "assembly": "GRCh38",
    "query": "chr17:43115777 A>G"
  }
}

{
  "name": "search_variant_evidence",
  "arguments": {
    "assembly": "GRCh38",
    "query": "chr17:43104953 G>C"
  }
}

{
  "name": "search_variant_evidence",
  "arguments": {
    "assembly": "GRCh38",
    "query": "rs80357914"
  }
}

{
  "name": "search_variant_evidence",
  "arguments": {
    "assembly": "GRCh38",
    "query": "NM_007294.3:c.68_69del"
  }
}

{
  "name": "search_variant_evidence",
  "arguments": {
    "assembly": "GRCh38",
    "query": "rs429358"
  }
}

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.

A reviewable classification workflow

A useful agent workflow must do more than produce a label. It should preserve the normalized variant identity, applied criteria, available source evidence, data versions and limitations so a qualified professional can review the path to the result.

• Resolve the public variant expression on GRCh38.
• Stop if resolution is ambiguous instead of choosing an allele.
• Report the automated classification and applied criteria exactly as returned.
• Separate available, unavailable and absent evidence.
• Keep the professional-review boundary visible.

Machine interface

Call search_variant_evidence or use the classify_germline_variant workflow prompt. The public endpoint is read-only and requires no account or API key.