ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.4218C>T (p.Phe1406=)

gnomAD frequency: 0.02603  dbSNP: rs1805246
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117201 SCV000151365 benign not specified 2013-03-25 criteria provided, single submitter clinical testing
GeneDx RCV000117201 SCV000168780 benign not specified 2013-11-26 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.
Invitae RCV000471775 SCV000562286 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000117201 SCV000613555 benign not specified 2017-06-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311749 SCV000846848 benign Inborn genetic diseases 2016-03-14 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.
Psychiatry Genetics Yale University RCV000084722 SCV000116858 not provided not provided no assertion provided not provided

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