ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1008-16C>G

gnomAD frequency: 0.03409  dbSNP: rs9932916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125306 SCV000168751 benign not specified 2013-10-31 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.
PreventionGenetics, part of Exact Sciences RCV000125306 SCV000305557 benign not specified criteria provided, single submitter clinical testing
Invitae RCV002055563 SCV002427809 benign Landau-Kleffner syndrome 2024-02-01 criteria provided, single submitter clinical testing

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