ClinVar Miner

Variants studied for Lennox-Gastaut syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
214 114 887 1046 140 11 2374

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHD2 178 78 620 685 81 4 1614
DNM1 13 11 153 246 41 0 460
DNM1, LOC113839516 2 8 37 45 8 0 99
GABRB3 10 13 20 4 1 2 50
CHD2, LOC126862230 5 0 13 24 1 0 43
CIZ1, DNM1 2 3 14 14 3 0 35
DNM1, LOC130002698 2 1 10 15 2 0 30
DNM1, LOC130002699 1 0 11 9 3 0 24
DNM1, LOC130002697 0 0 0 4 0 0 4
SCN2A 0 0 1 0 0 2 3
AK1, ANGPTL2, BBLN, CDK9, CFAP157, CIZ1, DNM1, DPM2, EEIG1, ENG, FPGS, GARNL3, LCN2, LMX1B, LRSAM1, MIR199B, MIR2861, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, RALGPS1, RPL12, SH2D3C, SLC25A25, SLC2A8, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16, ZBTB34, ZBTB43, ZNF79 0 0 1 0 0 0 1
CHRNA4 0 0 1 0 0 0 1
CIZ1, DNM1, MIR199B 0 0 1 0 0 0 1
DNM1, MIR199B, MIR3154 0 0 1 0 0 0 1
GABRG2 1 0 0 0 0 0 1
GATM 0 0 1 0 0 0 1
GRIN2B 0 0 0 0 0 1 1
KCNQ3 0 0 0 0 0 1 1
LOC102724058, SCN1A 0 0 0 0 0 1 1
MAPK10 0 0 1 0 0 0 1
POLG, POLGARF 0 0 1 0 0 0 1
ZEB2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 169 43 799 1031 133 0 2175
Revvity Omics, Revvity 3 1 29 3 0 0 36
Institute of Human Genetics, University of Leipzig Medical Center 4 7 15 4 0 0 30
OMIM 22 0 1 0 0 0 23
Fulgent Genetics, Fulgent Genetics 3 0 10 7 1 0 21
Baylor Genetics 2 6 11 0 0 0 19
Genome-Nilou Lab 0 0 0 0 12 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 6 0 0 0 10
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 6 3 0 0 0 10
Mendelics 4 2 3 0 0 0 9
New York Genome Center 0 2 7 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 4 3 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 1 0 0 6
3billion 1 4 1 0 0 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 4 0 0 0 6
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 1 2 0 0 0 5
Department of Laboratory Medicine, Yonsei University College of Medicine 0 5 0 0 0 0 5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 3 0 0 0 4
MGZ Medical Genetics Center 1 2 1 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Pediatrics, MediClubGeorgia 1 3 0 0 0 0 4
DASA 2 2 0 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 4 4
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 1 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 2 1 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 0 2
Blueprint Genetics 0 2 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 2 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
UniProtKB/Swiss-Prot 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Department of Neurology, Children’s Hospital of Chongqing Medical University 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1

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