ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.681C>A (p.Ile227=)

gnomAD frequency: 0.00010  dbSNP: rs148254591
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000471946 SCV000562280 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2022-09-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735554 SCV005366128 likely benign GRIN2B-related disorder 2024-06-28 no assertion criteria provided 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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