ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.4299C>T (p.Ala1433=)

gnomAD frequency: 0.00001  dbSNP: rs745715225
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003487886 SCV004235208 uncertain significance not provided 2023-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779246 SCV004603707 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-04-20 criteria provided, single submitter clinical testing

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