ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1569C>T (p.Val523=)

gnomAD frequency: 0.00081  dbSNP: rs148573953
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718626 SCV000527250 benign not provided 2020-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314046 SCV000848778 likely benign Inborn genetic diseases 2017-01-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000866738 SCV001007873 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-01-24 criteria provided, single submitter clinical testing

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