ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.21G>A (p.Gln7=)

dbSNP: rs2148107447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822461 SCV002071408 uncertain significance not specified 2021-03-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003607428 SCV004466542 likely benign 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2023-05-12 criteria provided, single submitter clinical testing

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