ClinVar Miner

Submissions for variant NM_000198.4(HSD3B2):c.228G>A (p.Ser76=)

gnomAD frequency: 0.00001  dbSNP: rs767147330
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001458890 SCV001662720 likely benign not provided 2023-11-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488263 SCV002801708 likely benign 3 beta-Hydroxysteroid dehydrogenase deficiency 2021-11-05 criteria provided, single submitter clinical testing

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