ClinVar Miner

Variants studied for adolescent/adult-onset epilepsy syndrome

Included ClinVar conditions (19):
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 association risk factor not provided total
12 10 437 179 63 1 18 2 686

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
EFHC1 3 0 227 79 29 1 7 1 326
GABRA1 5 9 158 51 20 0 4 0 237
CACNB4 1 0 45 49 13 0 1 0 105
CLCN2 0 0 5 0 1 0 2 0 7
CILK1 0 0 1 0 0 0 4 0 5
CACNA1G 0 0 0 0 0 0 0 1 1
CHRNA1 0 0 1 0 0 0 0 0 1
CHRNA7 1 0 0 0 0 0 0 0 1
GABRA1, GABRA6, GABRB2, GABRG2 1 0 0 0 0 0 0 0 1
GABRA1, GABRA6, GABRG2 1 0 0 0 0 0 0 0 1
SNAP25 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 8 6 240 106 34 0 0 0 393
Illumina Clinical Services Laboratory,Illumina 0 0 183 73 24 0 0 0 279
OMIM 0 0 4 0 0 0 18 0 22
Fulgent Genetics,Fulgent Genetics 0 0 9 0 0 0 0 0 9
Athena Diagnostics Inc 0 0 0 0 7 0 0 0 7
Baylor Genetics 3 0 2 0 0 0 0 0 5
Mendelics 0 2 1 0 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 0 0 2
Cell and Molecular Biology Laboratory,University of the Punjab Lahore 0 0 1 0 0 1 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 0 1
Ambry Genetics 0 1 0 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 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 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 0 0 1

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