ClinVar Miner

Variants studied for childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy

Included ClinVar conditions (14):
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
333 198 1270 1502 221 29 3467

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHD2 200 90 712 752 81 4 1804
SLC6A1 86 63 247 340 81 17 793
DNM1 15 14 179 276 41 0 519
DNM1, LOC113839516 4 9 41 47 8 0 107
GABRB3 12 16 24 4 1 2 59
CHD2, LOC126862230 5 0 17 27 1 0 50
CIZ1, DNM1 3 3 17 18 3 0 42
DNM1, LOC130002698 2 1 12 21 2 0 38
DNM1, LOC130002699 1 0 11 11 3 0 26
DNM1, LOC130002697 0 0 0 6 0 0 6
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
AK1, BBLN, CDK9, CERCAM, CFAP157, CIZ1, COQ4, DNM1, DPM2, EEIG1, ENG, FPGS, GLE1, GOLGA2, LCN2, MIR199B, MIR2861, NAIF1, ODF2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, SLC27A4, SPTAN1, ST6GALNAC4, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRUB2, TTC16, URM1 1 0 0 0 0 0 1
ARPC4, ARPC4-TTLL3, ATP2B2, BRK1, BRPF1, CAMK1, CIDEC, CPNE9, CRELD1, EMC3, FANCD2, FANCD2OS, GHRL, GHRLOS, IL17RC, IL17RE, IRAK2, JAGN1, MTMR14, OGG1, PRRT3, RPUSD3, SEC13, SLC6A1, SLC6A11, TADA3, TATDN2, TTLL3, VHL 1 0 0 0 0 0 1
ATP2B2, BRK1, CRELD1, EMC3, FANCD2, FANCD2OS, GHRL, GHRLOS, IL17RC, IRAK2, PRRT3, SEC13, SLC6A1, SLC6A11, TATDN2, VHL 0 1 0 0 0 0 1
ATP2B2, BRK1, FANCD2, FANCD2OS, GHRL, GHRLOS, IRAK2, SEC13, SLC6A1, SLC6A11, TATDN2, VHL 1 0 0 0 0 0 1
CACNA1A 0 0 0 0 0 1 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
MBD5 0 0 1 0 0 0 1
POLG 0 0 1 0 0 0 1
SEMA6B 0 1 0 0 0 0 1
SLC2A1 1 0 0 0 0 0 1
ZEB2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 102
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 264 65 1125 1481 214 0 3149
Institute of Human Genetics, University of Leipzig Medical Center 9 16 24 4 0 0 53
Revvity Omics, Revvity 5 2 38 3 0 0 48
Fulgent Genetics, Fulgent Genetics 5 0 16 10 1 0 32
OMIM 27 0 1 0 0 0 28
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 6 10 1 0 0 25
Baylor Genetics 3 7 12 0 0 0 22
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 12 4 1 0 0 21
New York Genome Center 1 4 16 0 0 0 21
Neuberg Centre For Genomic Medicine, NCGM 1 2 18 0 0 0 21
GenomeConnect - Brain Gene Registry 0 0 0 0 0 19 19
Mendelics 6 7 4 0 0 0 17
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 8 1 0 0 12
Genome-Nilou Lab 0 0 0 0 12 0 12
3billion, Medical Genetics 2 6 2 1 0 0 11
Juno Genomics, Hangzhou Juno Genomics, Inc 2 7 1 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 5 3 0 0 9
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 1 4 0 0 0 8
MGZ Medical Genetics Center 1 4 2 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 2 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 1 0 0 6
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 6 0 0 0 0 6
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 3 0 0 0 0 6
Solve-RD Consortium 0 6 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 4 0 0 0 0 5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 3 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 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
Pediatrics, MediClubGeorgia 1 3 0 0 0 0 4
DASA 2 2 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 2 0 0 0 4
MVZ Medizinische Genetik Mainz 0 1 3 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 1 2 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 0 0 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 2 1 0 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 3 0 0 0 0 3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 3 0 0 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 2 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 2 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 0 0 0 2
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
Illumina Laboratory Services, Illumina 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 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
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
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
Pediatric Department, Xiangya Hospital, Central South University 2 0 0 0 0 0 2
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 2 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 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
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 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
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 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
Neurogenetics Laboratory - MEYER, AOU Meyer 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 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
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 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
Institute of Human Genetics, Heidelberg University 1 0 0 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
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 0 1 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 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
Medical Genetics Clinic, University of Catania 0 1 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1

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