ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2172-6G>T

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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 RCV002649295 SCV002974391 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2022-03-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395500 SCV004134475 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing GRIN2B: BP4, BS2

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