ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) (rs78631453)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717493 SCV000848345 likely benign History of neurodevelopmental disorder 2018-02-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Athena Diagnostics Inc RCV000711851 SCV000842257 benign not provided 2018-03-08 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000300786 SCV000733482 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000187623 SCV000331375 likely benign not specified 2017-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000187623 SCV000241218 benign not specified 2016-12-13 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.
Genetic Services Laboratory, University of Chicago RCV000187623 SCV000247529 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300786 SCV000394714 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000300786 SCV000562537 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2018-01-08 criteria provided, single submitter clinical testing

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