ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1125+19A>C

gnomAD frequency: 0.00001  dbSNP: rs181390006
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697956 SCV000723288 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532761 SCV003490662 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-07-15 criteria provided, single submitter clinical testing

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