ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.554T>C (p.Leu185Ser)

gnomAD frequency: 0.00001  dbSNP: rs574377752
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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 RCV000664299 SCV000787652 uncertain significance 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2018-07-23 criteria provided, single submitter clinical testing

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