ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.91G>A (p.Glu31Lys)

dbSNP: rs33993166
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001283984 SCV001469517 uncertain significance not provided 2020-10-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283984 SCV001474387 likely benign not provided 2020-07-10 criteria provided, single submitter clinical testing
OMIM RCV000017132 SCV000037404 other HEMOGLOBIN O (PADOVA) 2018-05-10 no assertion criteria provided literature only

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