ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1069G>A (p.Val357Met)

gnomAD frequency: 0.00001  dbSNP: rs78929970
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613526 SCV000724778 likely benign not specified 2017-11-28 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.
Eurofins Ntd Llc (ga) RCV000728016 SCV000855534 uncertain significance not provided 2017-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001034263 SCV001197598 likely benign Landau-Kleffner syndrome 2024-12-10 criteria provided, single submitter clinical testing

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