ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) (rs7769409)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000012937 SCV000677970 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2015-01-16 criteria provided, single submitter clinical testing NM_000500.7(CYP21A2):c.1069C>T(R357W) is a classic 21-hydroxylase-deficient congenital adrenal hyperplasia mutation.
Athena Diagnostics Inc RCV000711368 SCV000841730 pathogenic not provided 2016-09-15 criteria provided, single submitter clinical testing
OMIM RCV000012937 SCV000033178 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1997-07-01 no assertion criteria provided literature only
GeneReviews RCV000012937 SCV000086791 pathologic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2013-08-29 no assertion criteria provided curation Converted during submission to Pathogenic.

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