ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.835G>A (p.Glu279Lys)

dbSNP: rs2151874388
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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 RCV002049750 SCV002107498 uncertain significance Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2021-03-10 criteria provided, single submitter clinical testing This variant was found in one of the partners during preconceptional screening.

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