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                        "comments": "Immunofluorescence and 2-A assays of dysferlin membrane localization in HEK293T cells showed the Arg1040Trp protein did not reach the cell membrane, indicating an impact on protein function (PMID: 35028538) (PS3_Moderate). ",
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    "id": "CG-PCER-VARINT:CA347217064/MONDO:0015152/180",
    "metadata": {
      "created": "2026-02-17T19:40:18.155Z",
      "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 19:40:18 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
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      "@id": "https://loinc.org/LA6668-3",
      "id": "LN:LA6668-3",
      "label": "Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
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    "variant": {
      "@id": "https://reg.genome.network/allele/CA347217064",
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      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001130987.2:c.3172C>T"
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          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-13T23:17:28.421Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}