ClinVar Miner

Submissions for variant NM_000500.7(CYP21A2):c.332_339delGAGACTAC (p.Gly111Valfs) (rs387906510)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000012946 SCV000677908 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2017-06-13 criteria provided, single submitter clinical testing NM_000500.7(CYP21A2):c.332_339del8(G111Vfs*21) is a classic 21-hydroxylase-deficient congenital adrenal hyperplasia mutation.
Athena Diagnostics Inc RCV000711378 SCV000841741 pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
OMIM RCV000012946 SCV000033190 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2003-06-01 no assertion criteria provided literature only
GeneReviews RCV000012946 SCV000086798 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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