ClinVar Miner

Variants studied for childhood absence epilepsy

Included ClinVar conditions (16):
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 risk factor not provided total
53 31 415 168 52 10 2 707

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GABRG2 30 14 138 65 14 0 0 250
GABRA1 5 7 152 51 20 3 0 228
GABRB3 15 9 83 48 6 3 0 161
CACNA1H 0 0 37 0 7 4 2 50
GABRA6 0 0 4 4 5 0 0 13
ATP10A, GABRA5, GABRB3 1 0 0 0 0 0 0 1
GABRA1, GABRA6, GABRB2, GABRG2 1 0 0 0 0 0 0 1
GABRA1, GABRA6, GABRG2 1 0 0 0 0 0 0 1
LOC101927358, MIR6130, RORB 0 1 0 0 0 0 0 1
SCN1B 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 48 24 232 151 31 0 0 486
Illumina Clinical Services Laboratory,Illumina 0 0 139 17 15 0 0 171
Baylor Genetics 0 2 17 0 0 0 0 19
OMIM 6 0 0 0 0 10 0 16
Fulgent Genetics,Fulgent Genetics 0 0 16 0 0 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 7 0 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 5 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 2 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 0 2
Mendelics 0 0 1 0 1 0 0 2
GenomeConnect, ClinGen 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 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 1
Neurogenetics group,VIB, Antwerp, Belgium 0 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 0 1

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