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                          "type": "Agent"
                        },
                        "comments": "2 different missense variants [NM_000517.6(HBA2):c.377T>A (p.Leu126Gln), no-star P in ClinVar; NM_000517.6(HBA2):c.377T>C (p.Leu126Pro), one-star P in ClinVar] in the same codon have been reported in patients with  alpha thalassemia [VCV000869221.1; VCV000015630.3]. However, these variants have not yet met the criteria to be classified as pathogenic or likely pathogenic by the ClinGen Hemoglobinopathy VCEP/(or) with a 2 star review status by ClinVar.",
                        "contributionDate": {
                          "date": "2026/4/8",
                          "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"
                      }
                    ],
                    "id": "CA125658/MONDO:0100562/173/ci/CA125658/MONDO:0100562/173.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA125658/MONDO:0100562/173/0/1780/1782",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA125658/MONDO:0100562/173/1/1781",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA125658/MONDO:0100562/173/0/1780",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA125658/MONDO:0100562/173",
    "metadata": {
      "created": "2026-04-08T15:13:23.616Z",
      "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": "Wed, 08 Apr 2026 15:08:39 -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": "1e6dcef7-360e-4f30-ab5c-a3383e00a026",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA125658",
      "id": "CAR:CA125658",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000517.6:c.377T>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000517.6(HBA2):c.377T>G (p.Leu126Arg)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-02T18:55:51.468Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}