ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) (rs77705198)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117183 SCV000168761 benign not specified 2014-03-20 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 RCV000290904 SCV000400155 benign Epilepsy, focal, with speech disorder and with or without mental retardation 2018-01-12 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.
Invitae RCV000290904 SCV000562543 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000290904 SCV000743903 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2016-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720478 SCV000851355 likely benign History of neurodevelopmental disorder 2016-11-22 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733423 SCV000861491 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000733423 SCV001150795 likely benign not provided 2019-06-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000117183 SCV000151347 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000290904 SCV000733560 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation no assertion criteria provided clinical testing

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