Submissions for variant NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=)

gnomAD frequency: 0.64620  dbSNP: rs6923864

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000992105	SCV001144104	benign	not provided	2019-07-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000992105	SCV001866209	benign	not provided	2019-08-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701604	SCV001933992	benign	Spinocerebellar ataxia 44	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000611478	SCV001933993	benign	Autosomal recessive spinocerebellar ataxia 13	2021-08-10	criteria provided, single submitter	clinical testing
Invitae	RCV000992105	SCV003330696	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117206	SCV000151370	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	RCV000611478	SCV000734484	benign	Autosomal recessive spinocerebellar ataxia 13		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000117206	SCV001971157	benign	not specified		no assertion criteria provided	clinical testing