ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1338CGG[10] (p.Gly455_Gly456dup)

dbSNP: rs398123612
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000540612 SCV000647076 likely benign Axenfeld-Rieger syndrome type 3 2023-12-11 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731769 SCV001984202 likely benign not specified 2020-09-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962542 SCV004779069 likely benign FOXC1-related disorder 2024-01-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.