ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.965_983dup (p.Thr329fs)

dbSNP: rs672601358
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
Center for Medical Genetics Ghent, University of Ghent RCV000149461 SCV000196105 pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome 2011-08-05 no assertion criteria provided clinical testing
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000149461 SCV000924447 pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome 2015-01-01 no assertion criteria provided 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.