ClinVar Miner

Submissions for variant NM_000500.5(CYP21A2):c.[701T>A;713T>A;719T>A]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000055823 SCV000086807 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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