ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.743C>A (p.Ala248Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Biochemistry Laboratory, Health Services Laboratory RCV003459925 SCV004190310 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2023-11-20 criteria provided, single submitter clinical testing ACMG:PVS1 PM2 PP4 PP5

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