ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.1223-21C>T

gnomAD frequency: 0.00535  dbSNP: rs755724055
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786421 SCV002028976 likely benign not provided 2021-05-23 criteria provided, single submitter clinical testing
Institute of Human Genetics, Medical University Innsbruck RCV000984577 SCV001132635 benign Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2019-05-24 no assertion criteria provided clinical testing

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