ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val) (rs200511900)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000974600 SCV001122432 likely benign not provided 2018-06-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286464 SCV001473039 uncertain significance none provided 2020-04-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336014 SCV001529289 uncertain significance Elliptocytosis 2 2018-08-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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