ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.4102G>A (p.Gly1368Ser)

gnomAD frequency: 0.00001  dbSNP: rs1043559346
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499999 SCV000595075 likely benign not specified 2015-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766820 SCV004583580 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-10-30 criteria provided, single submitter clinical testing

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