ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4011G>A (p.Ser1337=)

dbSNP: rs748586367
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419676 SCV000523705 likely benign not specified 2016-02-08 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 RCV002062604 SCV002373393 likely benign Landau-Kleffner syndrome 2024-08-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902533 SCV004722284 likely benign GRIN2A-related disorder 2019-06-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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