ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.360C>T (p.Leu120=)

gnomAD frequency: 0.00001  dbSNP: rs377642005
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001440728 SCV001643639 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-06-03 criteria provided, single submitter clinical testing
GeneDx RCV001692382 SCV001911771 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456732 SCV002617440 likely benign Inborn genetic diseases 2017-10-20 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.

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