ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.4077C>T (p.Ala1359=)

gnomAD frequency: 0.00003  dbSNP: rs375217280
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193623 SCV000247536 uncertain significance not specified 2015-07-17 criteria provided, single submitter clinical testing
GeneDx RCV000193623 SCV000292579 benign not specified 2015-03-30 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 RCV002517080 SCV003446278 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-11-28 criteria provided, single submitter clinical testing

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