ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1377G>C (p.Gly459=)

dbSNP: rs779734725
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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 RCV002120465 SCV002431831 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2025-01-06 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252769 SCV002523344 uncertain significance See cases 2019-11-13 criteria provided, single submitter clinical testing ACMG classification criteria: PM2

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