ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.142G>A (p.Asp48Asn)

dbSNP: rs33932070
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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 RCV001284628 SCV001470513 uncertain significance not provided 2019-12-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001284628 SCV001474250 likely benign not provided 2023-02-06 criteria provided, single submitter clinical testing
OMIM RCV000016342 SCV000036610 other HEMOGLOBIN G (COPENHAGEN) 2017-12-12 no assertion criteria provided literature only

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