ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.799+5G>C (rs193922542)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517998 SCV000613042 uncertain significance not provided 2017-11-15 criteria provided, single submitter clinical testing
Counsyl RCV000665430 SCV000789551 uncertain significance Deficiency of steroid 11-beta-monooxygenase 2017-02-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029649 SCV000052301 uncertain Congenital adrenal hyperplasia 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.

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.