ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2011-20_2011-17del

dbSNP: rs751965360
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602285 SCV000721304 likely benign not specified 2017-07-21 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 RCV002063947 SCV002342353 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-12-02 criteria provided, single submitter clinical testing

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