ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.1353T>C (p.Leu451=) (rs5316)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000385679 SCV000472322 likely benign Hyperaldosteronism, familial, type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274881 SCV000472323 likely benign Congenital adrenal hyperplasia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517786 SCV000613036 likely benign not specified 2016-08-29 criteria provided, single submitter clinical testing
Invitae RCV000873561 SCV001015573 likely benign not provided 2019-03-05 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.