ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2497C>G (p.Leu833Val)

gnomAD frequency: 0.00001  dbSNP: rs1439435536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002248248 SCV002520252 uncertain significance not provided 2021-11-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27839871)
Labcorp Genetics (formerly Invitae), Labcorp RCV003101363 SCV003502804 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-05-15 criteria provided, single submitter clinical testing

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