ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser) (rs121434247)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003505 SCV000023663 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1996-05-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000003505 SCV000692389 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2013-09-23 no assertion criteria provided clinical testing

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