ClinVar Miner

Submissions for variant NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) (rs9373491)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992109 SCV001144109 benign not provided 2019-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000992109 SCV001890040 benign not provided 2019-08-09 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001701512 SCV001933997 benign Spinocerebellar ataxia 44 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000608295 SCV001933998 benign Spinocerebellar ataxia, autosomal recessive 13 2021-08-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117208 SCV000151372 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000608295 SCV000734486 benign Spinocerebellar ataxia, autosomal recessive 13 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.