ClinVar Miner

Variants in gene GRIN2A

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
91 63 555 288 160 30 1062

Condition and significance breakdown #

Total conditions: 20
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Epilepsy, focal, with speech disorder and with or without mental retardation 60 30 420 178 131 1 787
not provided 21 26 122 71 23 28 278
not specified 0 0 23 106 38 0 152
History of neurodevelopmental disorder 0 0 12 26 8 0 46
Rolandic epilepsy 12 0 1 0 0 0 13
Inborn genetic diseases 3 2 6 1 0 0 12
Intellectual disability 1 4 3 2 0 0 10
See cases 5 0 0 0 0 0 5
Neurodevelopmental disorder 0 1 2 0 0 0 3
Epileptic encephalopathy 0 0 2 0 0 0 2
Seizures 0 0 2 0 0 0 2
Dystonia, intellectual disability and language impairment 0 1 0 0 0 0 1
Epilepsy 0 1 0 0 0 0 1
Familial temporal lobe epilepsy 1 0 0 1 0 0 0 1
Focal epilepsy 0 0 1 0 0 0 1
Global developmental delay 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Preeclampsia 0 0 0 0 0 1 1
Pyridoxine-dependent epilepsy 0 0 1 0 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 35 10 241 187 20 0 493
Illumina Clinical Services Laboratory,Illumina 0 0 155 11 124 0 290
GeneDx 13 16 57 105 50 0 241
CeGaT Praxis fuer Humangenetik Tuebingen 7 5 37 13 0 0 62
Ambry Genetics 3 2 18 27 8 0 57
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 1 26 5 4 0 40
Genetic Services Laboratory, University of Chicago 0 0 18 15 4 0 37
Psychiatry Genetics Yale University 0 0 0 0 0 27 27
Génétique des Maladies du Développement, Hospices Civils de Lyon 8 3 5 0 0 0 16
Athena Diagnostics Inc 0 0 7 0 8 0 15
Mendelics 0 3 3 7 1 0 14
Institute of Human Genetics, University of Leipzig Medical Center 2 5 5 1 0 0 13
OMIM 12 0 0 0 0 0 12
Baylor Genetics 2 0 10 0 0 0 12
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 12 0 0 0 0 0 12
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 2 3 1 0 8
PreventionGenetics, PreventionGenetics 0 0 0 0 7 0 7
GeneReviews 5 0 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 0 0 0 5
New York Genome Center 0 1 4 0 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 3 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 1 2 0 0 4
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 4 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 2 0 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 0 2 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 2 0 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 2
Claritas Genomics 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
ISCA site 1 1 0 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
Ambulatório de Genética Médica,Hospital Escola da Universidade Federal de Pelotas 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1

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.