ClinVar Miner

Submissions for variant NM_003126.3(SPTA1):c.2373C>A (p.Asp791Glu) (rs7418956)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756688 SCV000884578 benign not provided 2018-06-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345657 SCV000349487 likely benign Hereditary pyropoikilocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404574 SCV000349488 likely benign Spherocytosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310682 SCV000349489 likely benign Elliptocytosis 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000013717 SCV000033964 pathogenic Elliptocytosis 2 1992-08-01 no assertion criteria provided literature only

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