ClinVar Miner

Variants studied for childhood epilepsy with centrotemporal spikes

Included ClinVar conditions (3):
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
231 135 650 714 169 12 1797

Gene and significance breakdown #

Total genes and gene combinations: 45
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GRIN2A 132 134 645 714 169 10 1691
DEPDC5 11 0 0 0 0 0 11
SZT2 11 0 0 0 0 0 11
SPTAN1 7 0 1 0 0 0 8
CNTNAP2 6 0 0 0 0 0 6
RELN 5 0 0 0 0 0 5
SCN1A, SCN9A 5 0 0 0 0 0 5
CHD2 4 0 0 0 0 0 4
KCNQ3 4 0 0 0 0 0 4
ASAH1 3 0 0 0 0 0 3
GABRG2 3 0 0 0 0 0 3
PRICKLE1 3 0 0 0 0 0 3
RBFOX1 3 0 0 0 0 0 3
RELN, SLC26A5 3 0 0 0 0 0 3
STRADA 3 0 0 0 0 0 3
CPA6 2 0 0 0 0 0 2
KCNQ2 0 0 0 0 0 2 2
SCARB2 2 0 0 0 0 0 2
SCN2A 2 0 0 0 0 0 2
WWOX 2 0 0 0 0 0 2
ABAT, ATF7IP2, CARHSP1, CIITA, CLEC16A, DEXI, EMP2, GRIN2A, HAPSTR1, LITAF, NUBP1, PMM2, PRM1, PRM2, PRM3, RMI2, SOCS1, TEKT5, TMEM186, TNP2, TVP23A, USP7 0 0 1 0 0 0 1
ABAT, CARHSP1, GRIN2A, HAPSTR1, PMM2, TMEM186, USP7 0 0 1 0 0 0 1
ARFGEF1-DT, CPA6 1 0 0 0 0 0 1
CSTB 1 0 0 0 0 0 1
EPM2A 1 0 0 0 0 0 1
GRIN1 1 0 0 0 0 0 1
GRIN2A, LOC130058418 0 1 0 0 0 0 1
GRIN2B 0 0 1 0 0 0 1
IER3IP1 1 0 0 0 0 0 1
ITSN2 0 0 1 0 0 0 1
KCNT1 1 0 0 0 0 0 1
LOC102724058, SCN1A 1 0 0 0 0 0 1
LOC102724428 1 0 0 0 0 0 1
LOC126805704, SNIP1 1 0 0 0 0 0 1
LOC126862279, RBFOX1 1 0 0 0 0 0 1
MAF, WWOX 1 0 0 0 0 0 1
PCDH19 1 0 0 0 0 0 1
PLCB1 1 0 0 0 0 0 1
PRICKLE2 1 0 0 0 0 0 1
RBFOX3 1 0 0 0 0 0 1
SCN1A 1 0 0 0 0 0 1
SCN1B 1 0 0 0 0 0 1
SLC2A1 1 0 0 0 0 0 1
SLC6A1 1 0 0 0 0 0 1
TBC1D24 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 98 25 412 700 62 0 1297
Illumina Laboratory Services, Illumina 0 0 155 11 124 0 290
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 111 0 0 0 0 0 111
Institute of Human Genetics, University of Leipzig Medical Center 3 87 9 1 0 0 100
Revvity Omics, Revvity 0 1 25 0 0 0 26
Mendelics 2 4 3 7 1 0 17
Génétique des Maladies du Développement, Hospices Civils de Lyon 9 3 4 0 0 0 16
Baylor Genetics 2 0 13 0 0 0 15
Fulgent Genetics, Fulgent Genetics 0 0 11 3 0 0 14
OMIM 12 0 0 0 0 0 12
New York Genome Center 0 2 9 0 0 0 11
GeneReviews 0 0 0 0 0 7 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 0 5
3billion 2 1 2 0 0 0 5
MGZ Medical Genetics Center 0 2 2 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 4 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 2 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 2
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Fondazione Telethon, Telethon Institute of Genetics and Medicine 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 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 of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 0 1 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1

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