{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://erepo.genome.network/evrepo/api/summary/classification/2466639d-2e77-42b7-9452-ce584ef83a72/doc/sepio/version/2.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1745574676", "label": "ClinGen Hemoglobinopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HBB Version 1.0.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "1.0.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0013517", "id": "MONDO:0013517", "label": "beta-thalassemia HBB/LCRB", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/el/0/1615", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/ei/1/1616", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "contributionDate": { "date": "2026/4/30", "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/CA125310/MONDO:0013517/170/el/0/1615/1617", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "comments": "Found in the 5' splice site consensus sequence. This variant does not reside within a region of HBB that is defined as a mutational hotspot and/or critical functional domain by the ClinGen Hemoglobinopathy VCEP.", "contributionDate": { "date": "2026/4/30", "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": "CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1615/1617", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/1/1616", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1615", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/el/0/1747", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/ei/1/1748", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "contributionDate": { "date": "2026/4/30", "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/CA125310/MONDO:0013517/170/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "comments": "The computational predictor SpliceAI gives a Δ score of 0.81 for donor loss, which is above threshold >0.3, predicting that the variant may affect splicing by disrupting the donor splice site of intron I of HBB.", "contributionDate": { "date": "2026/4/30", "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": "CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1747", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/el/0/1717", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/ei/1/1718", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "contributionDate": { "date": "2026/4/30", "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/CA125310/MONDO:0013517/170/el/0/1717/1719", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "comments": "This variant has been detected in 2 individuals with transfusion-dependent thalassaemia. Both were homozygous for the variant. Total PM3 points: 1 [PMID: 27690257; PMID: 23425159].", "contributionDate": { "date": "2026/4/30", "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": "CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1717/1719", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/1/1718", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1717", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/el/0/1780", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/ei/1/1781", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "contributionDate": { "date": "2026/4/30", "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/CA125310/MONDO:0013517/170/el/0/1780/1782", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "comments": "Two different variants [c.92+5G>T; c.92+5G>A] [VCV000015448.17; VCV000015449.15] in the same base site have been classified as pathogenic for β-thalassemia with a 2-star review status by ClinVar. Splicing predictor SpliceAI predicts a splicing impact for both variants\nc.92+5G>T: Splice AI Δ score 0.73 for donor loss\nc.92+5G>A: Splice AI Δ score 0.76 for donor loss", "contributionDate": { "date": "2026/4/30", "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": "CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1780", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/el/0/1777", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/ei/1/1778", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "contributionDate": { "date": "2026/4/30", "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/CA125310/MONDO:0013517/170/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "contributionDate": { "date": "2026/4/30", "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": "CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1777", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/el/0/1735", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/ei/1/1736", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "contributionDate": { "date": "2026/4/30", "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/CA125310/MONDO:0013517/170/el/0/1735/1737", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "comments": "This variant has been reported in 4 unrelated probands meeting low MCV (<79 fL), low MCH (<27 pg) and increased HbA2 (>3.5%). Total score is 6 [PMID: 27690257; PMID: 23425159; PMID: 26291970; PMID: 29651865].", "contributionDate": { "date": "2026/4/30", "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": "CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1735/1737", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/1/1736", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1735", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/el/0/1648", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/ei/1/1649", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "contributionDate": { "date": "2026/4/30", "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/CA125310/MONDO:0013517/170/el/0/1648/1650", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "comments": "The variant has been reported to segregate with disease in 4 affected family members from 4 families. The total number of unaffected segregations is 2. The LOD score is 2.66", "contributionDate": { "date": "2026/4/30", "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": "CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1648/1650", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/1/1649", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1648", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/ei/1/1805", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "contributionDate": { "date": "2026/4/30", "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/CA125310/MONDO:0013517/170/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "comments": "The highest population minor allele frequency in gnomAD v4.1 is 0.004481 (442/91042 alleles) in South Asian, exceeding the ClinGen Hemoglobinopathy VCEP BS1 threshold (≥0.001). However, this variant is on the VCEP exclusion list for BA1/BS1; therefore, these criteria were not applied. ", "contributionDate": { "date": "2026/4/30", "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": "CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1804", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/el/0/1654", "evidenceItem": [ { "@id": 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"CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1798", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/el/0/1594", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA125310/MONDO:0013517/170/ei/1/1595", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "contributionDate": { "date": "2026/4/30", "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/CA125310/MONDO:0013517/170/el/0/1594/1596", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50052_EP177555712278789", "id": "CG-PCER-AGENT:CG_50052_EP177555712278789", "type": "Agent" }, "comments": "This is an intron variant [SO:0001627], not a null variant as defined by the criterion.", "contributionDate": { "date": "2026/4/30", "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": "CA125310/MONDO:0013517/170/ci/CA125310/MONDO:0013517/170.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1594/1596", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/1/1595", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170/0/1594", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA125310/MONDO:0013517/170", "metadata": { "created": "2026-04-30T09:59:16.849Z", "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": "Thu, 30 Apr 2026 09:59:16 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "2.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "2466639d-2e77-42b7-9452-ce584ef83a72", "variant": { "@id": "https://reg.genome.network/allele/CA125310", "id": "CAR:CA125310", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000518.5:c.92+5G>C" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000518.5(HBB):c.92+5G>C" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-05-27T18:19:37.279Z" } }, "status": { "code": 200, "name": "OK" } }