ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1780+8C>T

gnomAD frequency: 0.00068  dbSNP: rs199986080
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187689 SCV000241286 benign not specified 2014-08-22 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 RCV000655343 SCV000777273 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539738 SCV004790068 likely benign GRIN2B-related disorder 2019-03-27 criteria provided, single submitter 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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