ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2172-4A>G

gnomAD frequency: 0.00007  dbSNP: rs367915298
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707847 SCV000732686 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000867738 SCV001008996 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2025-01-27 criteria provided, single submitter clinical testing

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