ClinVar Miner

Variants in gene GRIN2A

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

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
214 203 1154 950 222 57 2439

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Landau-Kleffner syndrome 159 155 750 841 171 10 1963
not provided 48 42 376 172 71 28 700
Inborn genetic diseases 6 4 136 79 10 0 235
not specified 1 0 54 96 43 0 177
GRIN2A-related complex neurodevelopmental disorder 0 2 17 25 1 0 45
Intellectual disability 1 4 5 3 0 0 13
Self-limited epilepsy with centrotemporal spikes 12 0 1 0 0 0 13
See cases 6 1 4 0 0 0 11
Seizure 7 2 0 0 0 0 9
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Complex neurodevelopmental disorder 0 0 4 0 0 0 4
Hepatocellular carcinoma 0 0 0 0 0 4 4
Melanoma 0 2 0 0 0 2 4
Neurodevelopmental disorder 0 2 2 0 0 0 4
Epilepsy 1 2 0 0 0 0 3
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 1 1 0 0 0 0 2
Epileptic encephalopathy 0 0 2 0 0 0 2
Neoplasm 0 1 1 0 0 0 2
Abnormal cerebral morphology 0 1 0 0 0 0 1
CTCF-related neurodevelopmental disorder 0 1 0 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Dystonia, intellectual disability and language impairment 0 1 0 0 0 0 1
Epilepsy, familial temporal lobe, 1 0 0 1 0 0 0 1
Familial prostate cancer 0 0 0 0 0 1 1
Focal epilepsy 0 0 1 0 0 0 1
GRIN2A-Related Disorders 1 0 0 0 0 0 1
GRIN2A-Related Speech Disorders and Epilepsy 0 0 1 0 0 0 1
GRIN2A-related Movement disorder 0 0 1 0 0 0 1
Global developmental delay 0 0 1 0 0 0 1
History of neurodevelopmental disorder 0 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 0 1
Neurodevelopmental abnormality 0 1 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Preeclampsia 0 0 0 0 0 1 1
Pyridoxine-dependent epilepsy 0 0 1 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
Vascular dementia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 121
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 127 34 507 826 64 0 1558
GeneDx 33 26 261 153 70 0 543
Illumina Laboratory Services, Illumina 0 0 144 9 124 0 277
Ambry Genetics 6 4 136 80 10 0 236
CeGaT Center for Human Genetics Tuebingen 14 8 69 84 14 0 189
Institute of Human Genetics, University of Leipzig Medical Center 7 89 12 1 0 0 109
PreventionGenetics, part of Exact Sciences 0 1 17 25 8 0 51
Breakthrough Genomics, Breakthrough Genomics 0 0 3 14 27 0 44
Genetic Services Laboratory, University of Chicago 1 1 20 17 5 0 44
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 27 14 0 0 42
Eurofins Ntd Llc (ga) 4 1 26 5 4 0 40
Revvity Omics, Revvity 0 1 28 0 0 0 29
Psychiatry Genetics Yale University 0 0 0 0 0 27 27
Génétique des Maladies du Développement, Hospices Civils de Lyon 16 5 5 0 0 0 26
Athena Diagnostics 0 0 8 1 12 0 21
Mendelics 2 4 5 7 1 0 19
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 18 18
3billion 4 5 5 3 0 0 17
Fulgent Genetics, Fulgent Genetics 0 1 13 3 0 0 17
Baylor Genetics 2 0 14 0 0 0 16
Mayo Clinic Laboratories, Mayo Clinic 0 1 6 2 4 0 13
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 12 0 0 0 0 0 12
New York Genome Center 0 1 11 0 0 0 12
OMIM 12 0 0 0 0 0 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 7 2 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 7 2 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 0 9 0 0 0 9
Quest Diagnostics Nichols Institute San Juan Capistrano 3 1 5 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 2 1 4 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 2 2 3 1 0 8
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 2 2 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 6 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 4 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 0 5
GeneReviews 0 0 0 0 0 5 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 5 0 0 0 5
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 4 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 2 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 1 0 4
Diagnostic Laboratory, Strasbourg University Hospital 0 3 1 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 1 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 3 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 2 2 0 0 0 4
MGZ Medical Genetics Center 0 2 2 0 0 0 4
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 4 0 0 0 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 2 0 0 0 3
Centre of Medical Genetics, University Hospital Muenster 0 1 2 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 1 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 1 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 1 2 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 2 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 1 0 0 0 3
Rare Disease Center, Seoul National University Hospital 0 3 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 1 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 2 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 1 0 0 0 2
Fondazione Telethon, Telethon Institute of Genetics and Medicine 2 0 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 1 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 0 2 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 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
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 2 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Claritas Genomics 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 0 1 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 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 Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Medgenome Labs Pvt Ltd 0 0 1 0 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 0 1 0 0 0 0 1
Myllykangas group, University of Helsinki 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 0 0 1 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 1

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