ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.262C>A (p.Arg88Ser)

dbSNP: rs61622935
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
OMIM RCV000017556 SCV000037828 pathogenic Alexander disease 2001-11-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056878 SCV000087991 not provided not provided no assertion provided not provided
GeneReviews RCV000017556 SCV000222980 not provided Alexander disease no assertion provided literature only

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.