ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1218C>G (p.Ser406=)

gnomAD frequency: 0.00003  dbSNP: rs587783628
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
Genetic Services Laboratory, University of Chicago RCV000145980 SCV000193128 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000145980 SCV000241038 benign not specified 2014-10-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055888 SCV002395972 likely benign Rett syndrome, congenital variant 2024-01-03 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.