ClinVar Miner

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

gnomAD frequency: 0.01638  dbSNP: rs116354349
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Total submissions: 6
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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.

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