ClinVar Miner

Variants studied for variable-age onset idiopathic generalized epilepsy syndrome

Included ClinVar conditions (21):
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 association risk factor not provided total
43 43 712 380 94 1 11 6 1229

Gene and significance breakdown #

Total genes and gene combinations: 18
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
GABRA1 29 17 267 194 43 0 4 0 531
EFHC1 2 0 239 112 33 1 5 1 364
CLCN2 3 14 132 20 3 0 1 0 170
CACNB4 1 1 47 46 12 0 1 2 108
CLN8 2 9 16 4 2 0 0 1 32
CACNB4, LOC129934925 0 0 3 4 1 0 0 0 6
CLCN2, LOC129938055 0 0 4 0 0 0 0 0 4
CACNA1G 0 0 0 0 0 0 0 2 2
GABRA1, GABRA6, GABRB2, GABRG2 1 0 1 0 0 0 0 0 2
GABRA1, GABRG2 1 1 0 0 0 0 0 0 2
CAPRIN1 1 0 0 0 0 0 0 0 1
CHRNA1 0 0 1 0 0 0 0 0 1
CHRNA7 1 0 0 0 0 0 0 0 1
GABRA1, GABRA6 0 0 1 0 0 0 0 0 1
GABRA1, GABRA6, GABRG2 1 0 0 0 0 0 0 0 1
HSD17B3, SLC35D2-HSD17B3 1 0 0 0 0 0 0 0 1
SCN3A 0 0 1 0 0 0 0 0 1
SNAP25 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 26 10 357 280 66 0 0 0 739
Illumina Laboratory Services, Illumina 0 0 183 73 24 0 0 0 279
Fulgent Genetics, Fulgent Genetics 4 17 154 27 2 0 0 0 204
OMIM 1 0 4 0 0 0 11 0 16
New York Genome Center 0 0 10 0 0 0 0 0 10
Baylor Genetics 4 0 5 0 0 0 0 0 9
Athena Diagnostics 0 0 0 0 7 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 0 0 5
Uskudar University, Department of Molecular Biology and Genetics, Uskudar University 5 0 0 0 0 0 0 0 5
Mendelics 1 2 1 0 0 0 0 0 4
School Of Forensic, Xinxiang Medical University 0 4 0 0 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 1 0 0 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 0 0 2
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 0 1 0 1 0 0 0 2
Cell and Molecular Biology Laboratory, University of the Punjab Lahore 0 0 1 0 0 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 0 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 0 0 0 2
3billion, Medical Genetics 0 0 2 0 0 0 0 0 2
Bioinformatics Unit, Institut Pasteur de Montevideo 0 2 0 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 0 1
Ambry Genetics 0 1 0 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.