ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) (rs9378251)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711390 SCV000841753 pathogenic not provided 2016-06-16 criteria provided, single submitter clinical testing
Counsyl RCV000012938 SCV000678010 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2015-01-16 criteria provided, single submitter clinical testing NM_000500.7(CYP21A2):c.92C>T(P31L) is a non-classic 21-hydroxylase-deficient congenital adrenal hyperplasia mutation.
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000012938 SCV000590901 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2017-07-28 no assertion criteria provided clinical testing This variant has been reported in 1000 genomes database, dbSNP(rs9378251) and HGMD. The in silico prediction of this variant is disease-causing by MutationTaster.
Fulgent Genetics,Fulgent Genetics RCV000012938 SCV000893710 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2018-10-31 criteria provided, single submitter clinical testing
GeneReviews RCV000012938 SCV000086805 pathologic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2013-08-29 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000012938 SCV000033179 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1997-07-01 no assertion criteria provided literature only

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