ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.602A>G (p.Gln201Arg)

gnomAD frequency: 0.00001  dbSNP: rs753547381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756922 SCV001995173 uncertain significance not provided 2019-11-08 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV005057587 SCV005724117 likely benign Landau-Kleffner syndrome 2024-03-02 criteria provided, single submitter clinical testing

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