ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003143879 SCV003830280 likely pathogenic Deficiency of steroid 17-alpha-monooxygenase 2022-03-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV003143879 SCV004215381 likely pathogenic Deficiency of steroid 17-alpha-monooxygenase 2023-10-26 criteria provided, single submitter clinical testing

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