ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3588T>C (p.Pro1196=)

gnomAD frequency: 0.00001  dbSNP: rs200884387
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001595500 SCV001829739 benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458550 SCV002615222 likely benign Inborn genetic diseases 2017-07-21 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003771802 SCV004574903 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-01-22 criteria provided, single submitter clinical testing

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