ClinVar Miner

Variants studied for epilepsy, idiopathic generalized, susceptibility to, 14

Included ClinVar conditions (2):
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 total
0 0 23 0 0 2 23

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination uncertain significance risk factor total
SLC12A5 21 2 21
LOC113960611, SLC12A5 1 0 1
LOC130065980, SLC12A5 1 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter uncertain significance risk factor total
Fulgent Genetics, Fulgent Genetics 7 0 7
New York Genome Center 5 0 5
Baylor Genetics 3 0 3
OMIM 0 2 2
MGZ Medical Genetics Center 1 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1
Department of Medical Genetics, University of Pecs 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1

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