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      "type": "VariantPathogenicityInterpretationGuideline",
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      "type": "GeneticCondition"
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            ],
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              "@id": "SEPIO:0000224",
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          "@id": "https://obofoundry.org/sepio"
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                          "type": "Agent"
                        },
                        "comments": "SpliceAI score 0.31 for donor gain - PM5 not applicable",
                        "contributionDate": {
                          "date": "2025/7/8",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
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                        "type": "Contribution"
                      }
                    ],
                    "id": "CA10607009/MONDO:0015152/180/ci/CA10607009/MONDO:0015152/180.002",
                    "type": "InfFromBkgrndSciKnow"
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                ],
                "id": "CG-PCER-VARINT:CA10607009/MONDO:0015152/180/0/1780/1782",
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            ],
            "id": "CG-PCER-VARINT:CA10607009/MONDO:0015152/180/1/1781",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10607009/MONDO:0015152/180/0/1780",
        "type": "EvidenceLine"
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      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10607009/MONDO:0015152/180/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10607009/MONDO:0015152/180/ei/1/1748",
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50061_EP173626590511418",
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                },
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                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10607009/MONDO:0015152/180/el/0/1747/1749",
                "evidenceItem": [
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                          "type": "Agent"
                        },
                        "comments": "The computational predictor REVEL gives a score of 0.83, which is above the LGMD VCEP threshold of 0.70, evidence that correlates with impact to DYSF function (PP3). ",
                        "contributionDate": {
                          "date": "2025/7/8",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
                          "@id": "https://obofoundry.org/sepio/0000156",
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                          "label": "curator role",
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                    ],
                    "id": "CA10607009/MONDO:0015152/180/ci/CA10607009/MONDO:0015152/180.002",
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                ],
                "id": "CG-PCER-VARINT:CA10607009/MONDO:0015152/180/0/1747/1749",
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            ],
            "id": "CG-PCER-VARINT:CA10607009/MONDO:0015152/180/1/1748",
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            },
            "type": "CriterionAssessment"
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        ],
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          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10607009/MONDO:0015152/180/0/1747",
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50061_EP173626590511418",
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                "contributionDate": {
                  "date": "2025/7/8",
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                "contributionRole": {
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                "type": "Contribution"
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            ],
            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10607009/MONDO:0015152/180/el/0/1636/1638",
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                          "type": "Agent"
                        },
                        "comments": "This variant is absent from gnomAD v4.1.0 (PM2_Supporting). ",
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                          "date": "2025/7/8",
                          "description": "Date on which this evidence was provided"
                        },
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                    ],
                    "id": "CA10607009/MONDO:0015152/180/ci/CA10607009/MONDO:0015152/180.002",
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                ],
                "id": "CG-PCER-VARINT:CA10607009/MONDO:0015152/180/0/1636/1638",
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            ],
            "id": "CG-PCER-VARINT:CA10607009/MONDO:0015152/180/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10607009/MONDO:0015152/180/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10607009/MONDO:0015152/180/el/0/1609",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10607009/MONDO:0015152/180/ei/1/1610",
            "contribution": [
              {
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50061_EP173626590511418",
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                  "type": "Agent"
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                "contributionDate": {
                  "date": "2025/7/8",
                  "description": "Date on which this evidence was provided"
                },
                "contributionRole": {
                  "@id": "https://obofoundry.org/sepio/0000156",
                  "id": "SEPIO:0000516",
                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10607009/MONDO:0015152/180/el/0/1609/1611",
                "evidenceItem": [
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                        },
                        "comments": "This variant has been reported in unknown phase with a pathogenic variant in at least one individual with features consistent with LGMD (NM_003494.4: c.3137G>A p.(Arg1064His), 0.5 pts, PMID: 36983702, 30564623, LOVD Individual #00221252) (PM3_Supporting). \n\nc.3137G>A p.(Arg1064His) is independently P, cannot check co-occurrence\n\nEurofins Ntd Llc (ga) is only submitter in ClinVar (assume Nallamilli case), no other cases in LOVD",
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                      }
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                  }
                ],
                "id": "CG-PCER-VARINT:CA10607009/MONDO:0015152/180/0/1609/1611",
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              }
            ],
            "id": "CG-PCER-VARINT:CA10607009/MONDO:0015152/180/1/1610",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10607009/MONDO:0015152/180/0/1609",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA10607009/MONDO:0015152/180",
    "metadata": {
      "created": "2025-07-08T17:54:16.624Z",
      "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, 08 Jul 2025 17:54:16 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "269e144b-4131-4ccc-ba25-b60cddc1be71",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA10607009",
      "id": "CAR:CA10607009",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001130987.2:c.6155C>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001130987.2(DYSF):c.6155C>G (p.Pro2052Arg)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T01:21:37.775Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}