ClinVar Miner

Variants in gene GRIN2B

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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
148 179 661 697 246 20 1680

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 43 21 329 575 184 0 1143
not provided 61 40 234 142 85 14 543
Inborn genetic diseases 8 7 70 86 17 0 188
Intellectual disability, autosomal dominant 6 50 87 36 4 5 2 167
not specified 1 0 42 71 44 0 143
Developmental and epileptic encephalopathy, 27 14 19 33 2 4 0 71
GRIN2B-related disorder 2 4 5 28 2 3 44
Complex neurodevelopmental disorder 10 22 3 0 0 0 35
Intellectual disability 6 7 0 2 0 0 15
See cases 0 6 2 0 0 0 8
Intellectual Disability, Dominant 0 0 6 0 0 0 6
Autism spectrum disorder 1 1 0 1 0 0 3
Developmental disorder 3 0 0 0 0 0 3
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder 2 0 1 0 0 0 3
Neurodevelopmental disorder 0 1 1 0 0 0 2
Astigmatism; Motor delay; Delayed speech and language development; Joint hypermobility; Long fingers 1 0 0 0 0 0 1
Autistic behavior; Seizure; Atypical behavior; Intellectual disability 0 1 0 0 0 0 1
Autosomal dominant non-syndromic intellectual disability 1 0 0 0 0 0 1
Cerebral palsy 0 1 0 0 0 0 1
Craniosynostosis syndrome; Seizure; Fetal growth restriction; Atypical behavior; Self-injurious behavior; Scoliosis; Abnormal facial shape; Absent speech; Microcephaly; Difficulty walking; Intellectual disability, severe 0 1 0 0 0 0 1
Dyssynergia; intellectual deficiency 0 1 0 0 0 0 1
Epilepsy; Dyssynergia; intellectual deficiency 0 1 0 0 0 0 1
Epileptic encephalopathy 0 0 1 0 0 0 1
Global developmental delay 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 6; Atypical behavior; Self-injurious behavior; Sleep abnormality; Microcephaly; Intellectual disability; Hypotonia 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 6; West syndrome; Lennox-Gastaut syndrome; GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder 0 0 0 0 0 1 1
Intellectual disability; Developmental delay 0 1 0 0 0 0 1
Landau-Kleffner syndrome 0 0 1 0 0 0 1
Paroxysmal dystonia 0 0 0 1 0 0 1
Seizure 0 0 1 0 0 0 1
developmental delay with intractable seizures 0 0 1 0 0 0 1
intellectual deficiency 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 120
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 41 14 317 576 186 0 1134
GeneDx 47 22 168 122 96 0 455
Ambry Genetics 8 7 70 86 17 0 188
CeGaT Center for Human Genetics Tuebingen 10 9 34 65 5 0 123
Institute of Human Genetics, University of Leipzig Medical Center 23 52 11 0 0 0 84
Breakthrough Genomics, Breakthrough Genomics 0 0 0 11 35 0 46
Genetic Services Laboratory, University of Chicago 0 1 17 17 7 0 42
PreventionGenetics, part of Exact Sciences 2 3 5 28 2 0 40
GenomeConnect - Simons Searchlight 10 21 3 0 0 0 34
Revvity Omics, Revvity 1 1 29 1 0 0 32
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 20 10 0 0 32
Athena Diagnostics 0 0 1 4 18 0 23
Mendelics 8 8 2 1 0 0 19
Baylor Genetics 0 6 12 0 0 0 16
Psychiatry Genetics Yale University 0 0 0 0 0 14 14
Neuberg Centre For Genomic Medicine, NCGM 2 0 12 0 0 0 14
OMIM 12 0 0 0 0 0 12
Diagnostic Laboratory, Strasbourg University Hospital 4 7 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 5 4 0 11
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 11 0 11
New York Genome Center 1 0 8 1 0 0 10
3billion 2 5 3 0 0 0 10
Fulgent Genetics, Fulgent Genetics 0 0 6 3 0 0 9
Illumina Laboratory Services, Illumina 1 1 7 0 0 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 2 0 0 4 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 3 3 0 8
Eurofins Ntd Llc (ga) 1 0 5 0 1 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 2 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 3 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 0 5 0 0 7
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 1 2 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 2 2 0 6
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 5 0 0 1 0 0 6
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 3 1 0 0 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 1 2 0 0 0 5
Rare Disease Center, Seoul National University Hospital 0 5 0 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 2 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 2 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 3 0 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 2 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 1 2 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 0 0 0 0 3
Laboratory of Molecular Genetics, CHU Rennes 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 3 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 1 0 0 0 3
Laboratoire Génétique Moléculaire, CHRU TOURS 2 0 1 0 0 0 3
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 2 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
MVZ Medizinische Genetik Mainz 0 2 1 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 1 0 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 2 0 0 0 0 0 2
Fondazione Telethon, Telethon Institute of Genetics and Medicine 2 0 0 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 1 1 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 0 1 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Quantitative Genomic Medicine Laboratories, SL 0 1 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
ISCA site 1 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 1 0 0 0 0 1
Costain lab, The Hospital for Sick Children 0 0 1 0 0 0 1
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 0 0 1
Oasi Research Institute-IRCCS 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 0 1
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 1 0 0 0 0 1

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