ClinVar Miner

Submissions for variant NM_000198.4(HSD3B2):c.624T>C (p.Asn208=)

dbSNP: rs1040579140
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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 RCV002220129 SCV002369763 likely benign not provided 2023-11-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494113 SCV002796077 likely benign 3 beta-Hydroxysteroid dehydrogenase deficiency 2021-11-10 criteria provided, single submitter clinical testing

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