ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2599-19C>A

gnomAD frequency: 0.00017  dbSNP: rs3751258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235562 SCV000293814 likely benign not specified 2016-12-12 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.
Invitae RCV002057256 SCV002410597 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-12-23 criteria provided, single submitter clinical testing

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