ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.[169G>T;691C>T]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology RCV001726692 SCV001960988 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency criteria provided, single submitter clinical testing

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