ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)

dbSNP: rs151344513
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000031941 SCV001190266 likely pathogenic Spinocerebellar ataxia type 28 2019-06-11 criteria provided, single submitter clinical testing
OMIM RCV000031941 SCV000044670 pathogenic Spinocerebellar ataxia type 28 2010-10-01 no assertion criteria 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.