ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser)

gnomAD frequency: 0.00002  dbSNP: rs371190262
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462296 SCV000552116 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000606845 SCV000716745 benign not specified 2017-03-23 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.
Athena Diagnostics RCV000606845 SCV000842286 likely benign not specified 2021-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323741 SCV002626899 likely benign Inborn genetic diseases 2019-04-27 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Fulgent Genetics, Fulgent Genetics RCV000462296 SCV002803323 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2021-10-20 criteria provided, single submitter clinical testing

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