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                        "comments": "This variant has been reported in 1 proband meeting low MCV (77.5), low MCH (25.0), with normal red blood cell counts (5.03x10^12) and normal HbA2 (2.4), in one proband reported to meet α-thalassemia trait phenotype (low MCV: 74.7 and normal HbA2: 2.3), and in one other proband meeting low MCV (75.4) and low MCH (26.2). Total score is 0.55 (PMID 16116675; PMID 9322079, PMID: 28620953)\n\nPMID 16116675: \nMum (αα/αc.2delTα): Low MCV (77.5), MCH (25.0), normal RBC (5.03x10^12), normal HbA2 (2.4) => 0.2\n\nPMID 9322079: \nMum (αα/αc.2delTα): Alpha-thal trait phenotype (stated in paper)\nLow MCV (74.7), normal Hb (12.2), normal HbA2 (2.3) => 0.2\n\nPMID: 28620953:\nTwo (2) mutation carriers: mean Hb: 12.7 ± 0.1; mean MCH: 26.2 ± 0.4; mean MCV: 91.2 ± 15.8\n\tAt least one of two will have low MCV (MCV: 91.2 ± 15.8 => 91.2-15.8=75.4)\n\tHence low MCH (MCH 26.2 ± 0.4), low MCV (75.4) => 0.15x1=0.15\n",
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        ],
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          "@id": "https://obofoundry.org/sepio"
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        "id": "CG-PCER-VARINT:CA125662/MONDO:0100562/173/0/1606",
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    ],
    "id": "CG-PCER-VARINT:CA125662/MONDO:0100562/173",
    "metadata": {
      "created": "2026-04-08T06:09:44.956Z",
      "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 06:09:24 -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": "2b0b3327-e61d-4879-b167-b7e7398f3b0c",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA125662",
      "id": "CAR:CA125662",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000517.6:c.2del"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000517.6(HBA2):c.2del (p.Met1fs)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-27T03:15:39.380Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}