ClinVar Miner

Submissions for variant NM_000500.7(CYP21A2):c.[377C>G];[518T>A]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital RCV000416360 SCV000485095 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2016-09-16 criteria provided, single submitter clinical testing

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