ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.1214T>C (p.Phe405Ser)

dbSNP: rs2151876037
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV002211048 SCV002496419 uncertain significance Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2021-03-10 criteria provided, single submitter clinical testing This variant was detected in two CAH patients; in one it was found in trans with p.I173N (c.515 T>A) and in other patient, this variant was found in trans with c.293-13C>G variant of CYP21A2 gene

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