ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3648C>T (p.Arg1216=)

gnomAD frequency: 0.00016  dbSNP: rs201405157
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000084724 SCV000728535 likely benign not provided 2021-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000655342 SCV000777272 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-11-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000084724 SCV001144116 likely benign not provided 2019-02-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453415 SCV002613892 likely benign Inborn genetic diseases 2017-06-21 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.
Psychiatry Genetics Yale University RCV000084724 SCV000116860 not provided not provided no assertion provided not provided

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