ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.1665C>T (p.Ser555=) (rs1805482)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000615174 SCV000744080 benign Mental retardation, autosomal dominant 6 2017-07-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711873 SCV000842281 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715485 SCV000846314 benign History of neurodevelopmental disorder 2016-02-22 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 RCV001517088 SCV001725501 benign Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000711873 SCV001868040 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001701602 SCV001933975 benign Epileptic encephalopathy, early infantile, 27 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000615174 SCV001933976 benign Mental retardation, autosomal dominant 6 2021-08-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117191 SCV000151355 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 RCV000615174 SCV000733145 benign Mental retardation, autosomal dominant 6 no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000117191 SCV001958816 benign not specified no assertion criteria provided clinical testing

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