ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3797C>T (p.Pro1266Leu)

gnomAD frequency: 0.00006  dbSNP: rs201947553
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711600 SCV000241306 likely benign not provided 2019-11-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001238778 SCV001411607 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2025-01-06 criteria provided, single submitter clinical testing

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