ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
Athena Diagnostics Inc RCV000711390 SCV000841753 pathogenic not provided 2016-06-16 criteria provided, single submitter clinical testing
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
OMIM RCV000012938 SCV000033179 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1997-07-01 no assertion criteria provided literature only
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.
Foundation for Research in Genetics and Endocrinology, FRIGE's 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.