ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) (rs756853742)

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Total submissions: 1
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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 RCV000582995 SCV000692394 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2012-12-26 no assertion criteria provided clinical testing

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