Submissions for variant NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala)

gnomAD frequency: 0.00646  dbSNP: rs146753539

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514337	SCV000610898	likely benign	not provided	2017-06-15	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000514337	SCV000613565	benign	not provided	2018-12-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514337	SCV001114398	benign	not provided	2024-01-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490875	SCV002796623	likely benign	Autosomal recessive spinocerebellar ataxia 13; Spinocerebellar ataxia 44	2021-08-26	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000514337	SCV005227815	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514337	SCV001800766	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726209	SCV001964397	benign	not specified		no assertion criteria provided	clinical testing