ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.4041C>A (p.Ser1347Arg)

gnomAD frequency: 0.00004  dbSNP: rs769147604
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521371 SCV000621939 uncertain significance not provided 2019-06-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV000798539 SCV000938160 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-06-04 criteria provided, single submitter clinical testing

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