ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) (rs9378252)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173141 SCV000224230 benign not specified 2015-02-23 criteria provided, single submitter clinical testing
Mendelics RCV000012965 SCV001137076 benign Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000012965 SCV000033209 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2008-06-01 no assertion criteria provided literature only

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