ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.597C>G (p.Arg199=)

gnomAD frequency: 0.00070  dbSNP: rs529227054
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
Eurofins Ntd Llc (ga) RCV000313854 SCV000339959 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV003103753 SCV001014848 likely benign Axenfeld-Rieger syndrome type 3 2023-10-05 criteria provided, single submitter clinical testing
GeneDx RCV000313854 SCV002107320 likely benign not provided 2021-06-23 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.