ClinVar Miner

Variants studied for childhood absence epilepsy

Included ClinVar conditions (7):
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 total
74 32 252 176 36 545

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GABRG2 73 32 248 169 25 522
GABRA6 0 0 3 7 11 21
KCNQ2 1 0 0 0 0 1
SCN1B 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 68 26 191 163 30 478
Illumina Laboratory Services, Illumina 0 0 53 13 7 73
Institute of Human Genetics, University of Leipzig Medical Center 3 1 3 0 0 7
OMIM 6 0 0 0 0 6
Baylor Genetics 1 1 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 2 2
MGZ Medical Genetics Center 0 0 2 0 0 2
Mendelics 1 0 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 2
3billion 0 0 2 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 1

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