ClinVar Miner

Submissions for variant NM_000781.3(CYP11A1):c.1295C>T (p.Pro432Leu)

gnomAD frequency: 0.00004  dbSNP: rs779043334
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
CeGaT Center for Human Genetics Tuebingen RCV000995401 SCV001149543 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481774 SCV002793988 uncertain significance Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 2022-05-26 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.