ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.4205A>G (p.Lys1402Arg)

gnomAD frequency: 0.00001  dbSNP: rs1349506481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002094869 SCV002388508 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2022-06-27 criteria provided, single submitter clinical testing
GeneDx RCV003222389 SCV003918516 uncertain significance not provided 2022-10-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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