ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) (rs77029288)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187670 SCV000241267 benign not specified 2017-01-11 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 RCV000723931 SCV000331608 uncertain significance not provided 2017-08-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287434 SCV000400138 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.
Genetic Services Laboratory, University of Chicago RCV000187670 SCV000595064 uncertain significance not specified 2015-12-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000187670 SCV000613550 likely benign not specified 2017-02-15 criteria provided, single submitter clinical testing
Invitae RCV000287434 SCV000638250 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623372 SCV000740740 likely benign Inborn genetic diseases 2016-05-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000287434 SCV000743902 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2015-12-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000287434 SCV000745335 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2017-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719117 SCV000849981 benign History of neurodevelopmental disorder 2019-04-26 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;In silico models in agreement (benign)
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000287434 SCV000733559 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.