ClinVar Miner

Submissions for variant NM_000198.4(HSD3B2):c.631C>T (p.Leu211=)

gnomAD frequency: 0.00016  dbSNP: rs143038843
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001409605 SCV001611636 likely benign not provided 2023-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001831445 SCV002796187 likely benign 3 beta-Hydroxysteroid dehydrogenase deficiency 2021-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831445 SCV002094669 likely benign 3 beta-Hydroxysteroid dehydrogenase deficiency 2019-10-24 no assertion criteria provided clinical testing

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