Submissions for variant NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=)

dbSNP: rs1047006

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001618271	SCV001842555	benign	not provided	2019-08-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701511	SCV001933994	benign	Spinocerebellar ataxia 44	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000601219	SCV001933995	benign	Autosomal recessive spinocerebellar ataxia 13	2021-08-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001618271	SCV003207106	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117207	SCV000151371	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	RCV000601219	SCV000734485	benign	Autosomal recessive spinocerebellar ataxia 13		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000117207	SCV001972255	benign	not specified		no assertion criteria provided	clinical testing