ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) (rs201552310)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711386 SCV000841749 pathogenic not provided 2018-01-03 criteria provided, single submitter clinical testing
OMIM RCV000012940 SCV000033182 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1992-08-01 no assertion criteria provided literature only

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