ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.362C>A (p.Ala121Glu)

dbSNP: rs63749927
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759778 SCV000889342 uncertain significance not provided 2018-05-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000759778 SCV001157992 benign not provided 2022-02-11 criteria provided, single submitter clinical testing
OMIM RCV000017059 SCV000037331 other HEMOGLOBIN J (BIRMINGHAM) 2016-07-20 no assertion criteria provided literature only
OMIM RCV000017060 SCV000037332 other HEMOGLOBIN J (MEERUT) 2016-07-20 no assertion criteria provided literature only

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