ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) (rs61731465)

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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 RCV000715222 SCV000846050 likely benign History of neurodevelopmental disorder 2017-09-18 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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000423176 SCV000511680 benign not provided 2016-09-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117184 SCV000226045 benign not specified 2017-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000117184 SCV000168762 benign not specified 2014-02-07 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 RCV000117184 SCV000151348 benign not specified 2013-10-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000227940 SCV000400154 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2016-06-14 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000117184 SCV000864322 likely benign not specified 2017-07-11 criteria provided, single submitter clinical testing BS1, BP4, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Invitae RCV000227940 SCV000285631 benign Epilepsy, focal, with speech disorder and with or without mental retardation 2017-12-27 criteria provided, single submitter clinical testing

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