ClinVar Miner

Variants studied for epilepsy, idiopathic generalized, susceptibility to, 12

Included ClinVar conditions (4):
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
6 4 77 51 29 4 1 168

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
SLC2A1 6 4 77 50 28 4 1 166
LOC129930369, SLC2A1 0 0 0 1 0 0 0 1
SLC2A1, SLC2A1-DT 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Genome-Nilou Lab 0 0 67 49 29 0 0 145
Fulgent Genetics, Fulgent Genetics 3 1 4 2 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 0 5
OMIM 0 0 0 0 0 4 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 4 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 1

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