Submissions for variant NM_007327.4(GRIN1):c.2241G>C (p.Val747=)

gnomAD frequency: 0.01638  dbSNP: rs116354349

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000117169	SCV000523008	benign	not specified	2016-01-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000464613	SCV000554323	benign	Intellectual disability, autosomal dominant 8	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000117169	SCV000613544	benign	not specified	2017-06-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312119	SCV000847332	benign	Inborn genetic diseases	2016-03-02	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV004717962	SCV005318054	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000117169	SCV000151333	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.