ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2637G>A (p.Glu879=)

gnomAD frequency: 0.00001  dbSNP: rs200754384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001716108 SCV001943985 likely benign not provided 2019-10-14 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016)
Labcorp Genetics (formerly Invitae), Labcorp RCV002538661 SCV003280197 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-04-29 criteria provided, single submitter clinical testing

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