ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.4101C>T (p.Pro1367=)

gnomAD frequency: 0.00043  dbSNP: rs112932810
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712625 SCV000716684 benign not provided 2019-10-15 criteria provided, single submitter clinical testing
Invitae RCV000872267 SCV001014056 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-12-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543419 SCV004761932 likely benign GRIN2B-related disorder 2019-10-28 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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