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      "type": "VariantPathogenicityInterpretationGuideline",
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      "id": "MONDO:0012999",
      "label": "guanidinoacetate methyltransferase deficiency",
      "type": "GeneticCondition"
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        "id": "CG-PCER-VARINT:CA402998134/MONDO:0012999/026/0/1738",
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                        "comments": "Another missense variant (c.115A>C p.Lys39Gln) in the same codon has been classified as of uncertain significance by a clinical lab, but it was absent literature evidence (ClinVar ID:1051517) (PM5 not met).",
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              "label": "Not Met"
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            "contribution": [
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                  "description": "Date on which this evidence was provided"
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                  "label": "curator role",
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              "label": "Met"
            },
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          }
        ],
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          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA402998134/MONDO:0012999/026/0/1636",
        "type": "EvidenceLine"
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    ],
    "id": "CG-PCER-VARINT:CA402998134/MONDO:0012999/026",
    "metadata": {
      "created": "2026-04-20T21:12:15.579Z",
      "note": "DISCLAIMER: While the data/content in this document is approved by ClinGen expert panel(s), the SEPIO schema presented here is an initial prototype and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema.",
      "producedAtUTC": "Mon, 20 Apr 2026 21:12:15 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.1.0"
    },
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      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
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    "variant": {
      "@id": "https://reg.genome.network/allele/CA402998134",
      "id": "CAR:CA402998134",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_138924.3:c.115A>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_138924.3:c.115A>G"
        }
      ],
      "type": "CAR"
    }
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    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-27T23:44:40.572Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}