ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.448-50G>A

gnomAD frequency: 0.00006  dbSNP: rs780875791
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Medical University Innsbruck RCV000984594 SCV001132652 benign Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2019-05-24 no assertion criteria provided clinical testing

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