ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.428A>C (p.Ter143Ser) (rs41321345)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759055 SCV000888136 pathogenic not provided 2018-05-23 criteria provided, single submitter clinical testing
OMIM RCV000016894 SCV000037165 other HEMOGLOBIN KOYA DORA 2013-03-28 no assertion criteria provided literature only

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