ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.764G>A (p.Arg255Gln)

gnomAD frequency: 0.00006  dbSNP: rs567775035
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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 RCV002094530 SCV002434885 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003445048 SCV004171659 uncertain significance Deficiency of steroid 17-alpha-monooxygenase 2023-11-24 no assertion criteria provided clinical testing

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