ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.404T>C (p.Met135Thr)

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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 RCV003046535 SCV003333498 likely benign Landau-Kleffner syndrome 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV004765628 SCV005377233 likely pathogenic not provided 2023-11-27 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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