ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) (rs9282858)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000531645 SCV000692378 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2011-05-23 no assertion criteria provided clinical testing
Invitae RCV000531645 SCV000631418 benign 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2017-05-15 criteria provided, single submitter clinical testing
OMIM RCV000003511 SCV000023669 benign STEROID 5-ALPHA-REDUCTASE POLYMORPHISM 2008-08-15 no assertion criteria provided literature only
University of Sydney Medical Foundation RCV000083640 SCV000115726 not provided not provided no assertion provided not provided

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