ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1797T>A (p.Ser599=)

dbSNP: rs2136470570
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001408419 SCV001610419 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-02-01 criteria provided, single submitter clinical testing

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