ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) (rs61753382)

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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 RCV000117182 SCV000151346 benign not specified 2016-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000117182 SCV000168759 benign not specified 2013-12-20 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.
Illumina Clinical Services Laboratory,Illumina RCV000335469 SCV000400162 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000857891 SCV000562535 benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000335469 SCV000743904 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2016-01-14 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000335469 SCV000745336 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2017-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717673 SCV000848529 benign History of neurodevelopmental disorder 2016-06-21 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

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