ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.140A>G (p.Glu47Gly)

gnomAD frequency: 0.00008  dbSNP: rs199526748
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187695 SCV000241292 likely benign not provided 2020-09-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27029629, 29124671)
Labcorp Genetics (formerly Invitae), Labcorp RCV001083356 SCV000659520 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-11-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818452 SCV002068875 uncertain significance not specified 2018-04-30 criteria provided, single submitter clinical testing

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