ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.150C>A (p.Ser50Arg)

dbSNP: rs41518249
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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 RCV002476984 SCV002774608 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing
OMIM RCV000017149 SCV000037421 other HEMOGLOBIN SAVARIA 2016-07-20 no assertion criteria provided literature only

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