ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys) (rs6474)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245772 SCV000304552 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711377 SCV000841740 benign not provided 2017-07-18 criteria provided, single submitter clinical testing
GeneReviews RCV000055817 SCV000086797 non-pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2013-08-29 no assertion criteria provided curation Converted during submission to Benign.

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