ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2457C>T (p.Gly819=)

gnomAD frequency: 0.00003  dbSNP: rs750219908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841571 SCV000983542 likely benign not provided 2018-04-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001497211 SCV001701936 likely benign Landau-Kleffner syndrome 2024-01-19 criteria provided, single submitter clinical testing

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