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
Genetic Services Laboratory, University of Chicago RCV000117184 SCV000151348 benign not specified 2013-10-01 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117184 SCV000226045 benign not specified 2017-12-06 criteria provided, single submitter clinical testing
Invitae RCV000227940 SCV000285631 benign Epilepsy, focal, with speech disorder and with or without mental retardation 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000227940 SCV000400154 benign Epilepsy, focal, with speech disorder and with or without mental retardation 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
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
Ambry Genetics RCV000715222 SCV000846050 likely benign History of neurodevelopmental disorder 2018-08-16 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
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).

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