ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531645 SCV000631418 benign 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2020-10-29 criteria provided, single submitter clinical testing
GeneDx RCV000083640 SCV001942014 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31942420)
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
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

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