ClinVar Miner

Variants studied for epilepsy, childhood absence, susceptibility to, 6

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
0 1 368 247 23 6 5 646

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination likely pathogenic uncertain significance likely benign benign risk factor not provided total
CACNA1H 1 368 247 23 6 5 646

Submitter and significance breakdown #

Total submitters: 20
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Submitter likely pathogenic uncertain significance likely benign benign risk factor not provided total
Fulgent Genetics, Fulgent Genetics 0 324 247 16 0 0 587
Baylor Genetics 0 17 0 0 0 0 17
New York Genome Center 0 17 0 0 0 0 17
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 7 0 0 7
OMIM 0 0 0 0 6 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Mayo Clinic Laboratories, Mayo Clinic 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1

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