ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2514C>T (p.Cys838=)

gnomAD frequency: 0.08178  dbSNP: rs3026160
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000710141 SCV000613553 benign not provided 2017-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312129 SCV000846212 benign Inborn genetic diseases 2016-03-19 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.
Invitae RCV001511161 SCV001718358 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000710141 SCV001896061 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117193 SCV000151357 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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