ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.497C>G (p.Ser166Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003315171 SCV004014794 likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2023-04-17 criteria provided, single submitter clinical testing

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