ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.954G>A (p.Thr318=) (rs753774484)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516213 SCV000613046 likely pathogenic not provided 2016-12-01 criteria provided, single submitter clinical testing
Counsyl RCV000667365 SCV000791799 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-05-30 no assertion criteria provided 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.