ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) (rs6472)

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
Athena Diagnostics Inc RCV000055819 SCV000677266 benign Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2017-04-13 criteria provided, single submitter clinical testing
GeneReviews RCV000055819 SCV000086801 non-pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2013-08-29 no assertion criteria provided curation Converted during submission to Benign.
Integrated Genetics/Laboratory Corporation of America RCV000029655 SCV000052307 not provided Congenital adrenal hyperplasia 2015-10-02 no assertion provided clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000252481 SCV000540566 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
OMIM RCV000024069 SCV000045360 benign 21-HYDROXYLASE POLYMORPHISM 1991-08-01 no assertion criteria provided literature only
PreventionGenetics RCV000252481 SCV000304565 benign not specified criteria provided, single submitter clinical testing

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.