ClinVar Miner

Submissions for variant NM_000198.4(HSD3B2):c.246C>T (p.Ala82=)

gnomAD frequency: 0.00005  dbSNP: rs587717286
Minimum review status: Collection method:
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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 RCV001489028 SCV001693562 likely benign not provided 2024-03-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826322 SCV002094662 likely benign 3 beta-Hydroxysteroid dehydrogenase deficiency 2021-01-13 no assertion criteria provided clinical testing

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