ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1875G>C (p.Gly625=)

gnomAD frequency: 0.00005  dbSNP: rs201095094
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001708452 SCV001934848 likely benign not provided 2019-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073310 SCV002422092 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002414298 SCV002721101 likely benign Inborn genetic diseases 2018-02-28 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.

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