ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg)

dbSNP: rs151344517
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
Undiagnosed Diseases Network, NIH RCV000023378 SCV000746662 pathogenic Spinocerebellar ataxia type 28 2017-07-18 criteria provided, single submitter clinical testing
OMIM RCV000023378 SCV000044669 pathogenic Spinocerebellar ataxia type 28 2010-10-01 no assertion criteria provided literature only
GeneReviews RCV000023378 SCV000054613 not provided Spinocerebellar ataxia type 28 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.