Submissions for variant NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro)

gnomAD frequency: 0.56892  dbSNP: rs6923492

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV000604404	SCV001137253	benign	Autosomal recessive spinocerebellar ataxia 13	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000992103	SCV001144101	benign	not provided	2019-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701510	SCV001933990	benign	Spinocerebellar ataxia 44	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000604404	SCV001933991	benign	Autosomal recessive spinocerebellar ataxia 13	2021-08-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000992103	SCV001944954	benign	not provided	2019-09-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25062106, 24442360)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000992103	SCV003330695	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117205	SCV000151369	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	RCV000604404	SCV000734483	benign	Autosomal recessive spinocerebellar ataxia 13		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000117205	SCV001974286	benign	not specified		no assertion criteria provided	clinical testing