ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.113CCA[2] (p.Thr40del)

dbSNP: rs63751150
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004589515 SCV005081309 pathogenic not provided 2023-06-26 criteria provided, single submitter clinical testing Heterozygous carriers are asymptomatic but may have mild anemia on clinical evaluation (Koren et al., 2016); In-frame deletion of 1 amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28160324, 7942784, 23181750, 26519868, 7994622, 24716903, 18654887, 9576334, Aghayev2022b[abstract], 22428534, 15224363)
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004589515 SCV005090175 pathogenic not provided 2025-03-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005007861 SCV005642338 pathogenic Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; Methemoglobinemia, alpha type; Erythrocytosis, familial, 7 2024-02-13 criteria provided, single submitter clinical testing
OMIM RCV000017204 SCV000037476 other HEMOGLOBIN TAYBE 2016-07-20 no assertion criteria provided literature only

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