ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.3498C>T (p.Ser1166=) (rs45600931)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000186633 SCV000151360 benign not specified 2015-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000186633 SCV000168778 benign not specified 2014-02-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000460176 SCV000562296 benign Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2018-01-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000186633 SCV000613554 benign not specified 2017-06-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000603304 SCV000744078 benign Mental retardation, autosomal dominant 6 2014-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716148 SCV000846984 benign History of neurodevelopmental disorder 2016-06-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000603304 SCV000733143 likely benign Mental retardation, autosomal dominant 6 no assertion criteria provided clinical testing

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