ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) (rs1806201)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000084728 SCV000842282 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715260 SCV000846088 benign History of neurodevelopmental disorder 2016-01-08 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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 RCV001516888 SCV001725253 benign Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000084728 SCV001935373 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24292895, 17569088)
Psychiatry Genetics Yale University RCV000084728 SCV000116864 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000117194 SCV000151358 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000117194 SCV001740476 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000117194 SCV001951026 benign not specified no assertion criteria provided clinical testing

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