ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.987C>G (p.Tyr329Ter)

dbSNP: rs374769118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468655 SCV004215441 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2022-06-02 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003992773 SCV004809386 likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2024-04-04 criteria provided, single submitter clinical testing

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