ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1104C>A (p.Val368=)

gnomAD frequency: 0.00004  dbSNP: rs780806885
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
GeneDx RCV000827787 SCV000969448 likely benign not provided 2020-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001410768 SCV001612819 likely benign Rett syndrome, congenital variant 2022-09-30 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.