ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.280C>G (p.Arg94Gly)

dbSNP: rs1282664179
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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 RCV001034198 SCV001197529 likely benign Landau-Kleffner syndrome 2024-11-03 criteria provided, single submitter clinical testing
GeneDx RCV004789367 SCV005402057 uncertain significance not provided 2024-05-14 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; Has not been previously published as pathogenic or benign to our knowledge

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