ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.594C>T (p.Ile198=)

gnomAD frequency: 0.00287  dbSNP: rs28383064
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527644 SCV000631426 benign 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001644629 SCV001859390 benign not provided 2015-08-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821521 SCV002070895 likely benign not specified 2017-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001644629 SCV002498540 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing SRD5A2: BP4, BP7

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