ClinVar Miner

Submissions for variant NM_007325.5(GRIA3):c.1888G>A (p.Gly630Arg)

dbSNP: rs587777361
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001260622 SCV001437714 pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
GeneDx RCV001556968 SCV001778648 pathogenic not provided 2023-10-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32977175, 24721225, 35873028, 36114283)
Yale Center for Mendelian Genomics, Yale University RCV001849494 SCV002106989 likely pathogenic Seizure 2021-04-05 no assertion criteria provided literature only

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