ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.1450dup (p.Arg484fs)

dbSNP: rs779791105
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269786 SCV001450041 likely pathogenic not provided 2019-04-03 criteria provided, single submitter clinical testing
Institute of Human Genetics, Medical University Innsbruck RCV000984586 SCV001132644 likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2019-05-24 no assertion criteria provided clinical testing

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