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      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "2.0.0"
    },
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      "id": "MONDO:0015152",
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      "type": "GeneticCondition"
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            ],
            "id": "CG-PCER-VARINT:CA1705913/MONDO:0015152/180/1/1799",
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              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
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            "evidenceLine": [
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                "evidenceItem": [
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                    "contribution": [
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                        "comments": "The computational predictor REVEL gives a score of 0.72, which is above the LGMD VCEP threshold of ≥0.70, evidence that correlates with impact to DYSF function (PP3). \n\nSplice AI: 0.02",
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                    ],
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                    "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/35028538",
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                ],
                "id": "CG-PCER-VARINT:CA1705913/MONDO:0015152/180/0/1825/1827",
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        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA1705913/MONDO:0015152/180/0/1825",
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    ],
    "id": "CG-PCER-VARINT:CA1705913/MONDO:0015152/180",
    "metadata": {
      "created": "2026-02-17T18:40:49.849Z",
      "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": "Tue, 17 Feb 2026 18:40:49 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6668-3",
      "id": "LN:LA6668-3",
      "label": "Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "6daf3419-e631-44cd-a2c9-ca2cf04b1fc9",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA1705913",
      "id": "CAR:CA1705913",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001130987.2:c.1721T>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T08:58:27.673Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}