ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.548-5C>G

dbSNP: rs753272225
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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 RCV000583325 SCV000692391 uncertain significance 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2011-03-10 no assertion criteria provided clinical testing

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