ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) (rs145063086)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000514244 SCV000241262 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23933820, 25164438)
Genetic Services Laboratory, University of Chicago RCV000187665 SCV000247527 uncertain significance not specified 2015-07-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000514244 SCV000341357 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309897 SCV000400141 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.
Neurogenetics Laboratory - MEYER, AOU Meyer RCV000417003 SCV000494553 uncertain significance Focal epilepsy 2016-11-16 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514244 SCV000609881 likely benign not provided 2017-09-15 criteria provided, single submitter clinical testing
Invitae RCV000309897 SCV000638247 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2020-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716120 SCV000846955 benign History of neurodevelopmental disorder 2020-04-13 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Mendelics RCV000309897 SCV001139937 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514244 SCV001144085 benign not provided 2019-04-26 criteria provided, single submitter clinical testing

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