ClinVar Miner

Submissions for variant NM_000198.4(HSD3B2):c.924C>T (p.Tyr308=)

gnomAD frequency: 0.00001  dbSNP: rs587775183
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001499303 SCV001704065 likely benign not provided 2024-02-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826340 SCV002094675 likely benign 3 beta-Hydroxysteroid dehydrogenase deficiency 2020-04-09 no assertion criteria provided clinical testing

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