ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.4300C>T (p.Leu1434Phe)

dbSNP: rs1002108827
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518685 SCV001727426 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-03-06 criteria provided, single submitter clinical testing
GeneDx RCV002305611 SCV002599527 uncertain significance not provided 2022-05-01 criteria provided, single submitter clinical testing 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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