ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.3534C>T (p.His1178=) (rs1806191)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711874 SCV000842284 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715335 SCV000846164 benign History of neurodevelopmental disorder 2016-02-09 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 RCV001517087 SCV001725500 benign Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000711874 SCV001904846 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001701508 SCV001933972 benign Epileptic encephalopathy, early infantile, 27 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001701754 SCV001933973 benign Mental retardation, autosomal dominant 6 2021-08-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117197 SCV000151361 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 RCV000117197 SCV001741545 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000117197 SCV001953163 benign not specified no assertion criteria provided clinical testing

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