ClinVar Miner

Submissions for variant NM_001278064.2(GRM1):c.889C>T (p.Arg297Ter)

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
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000768403 SCV000898479 pathogenic Autosomal recessive spinocerebellar ataxia 13 2019-04-19 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001255402 SCV001431802 pathogenic Global developmental delay 2019-11-01 criteria provided, single submitter clinical testing homozygous
OMIM RCV000768403 SCV001443784 pathogenic Autosomal recessive spinocerebellar ataxia 13 2020-11-17 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.