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

gnomAD frequency: 0.55222  dbSNP: rs9373491

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	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
Genome-Nilou Lab	RCV001701512	SCV001933997	benign	Spinocerebellar ataxia 44	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000608295	SCV001933998	benign	Autosomal recessive spinocerebellar ataxia 13	2021-08-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000992109	SCV003330697	benign	not provided	2025-02-03	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	Autosomal recessive spinocerebellar ataxia 13		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000117208	SCV001973216	benign	not specified		no assertion criteria provided	clinical testing