ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.275G>A (p.Arg92Gln)

gnomAD frequency: 0.00004  dbSNP: rs201966022
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209184 SCV001380607 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003334048 SCV004042540 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing GRIN2B: PP2, BP4
PreventionGenetics, part of Exact Sciences RCV004538448 SCV004711466 likely benign GRIN2B-related disorder 2023-09-05 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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