ClinVar Miner

Variants studied for epilepsy, idiopathic generalized, susceptibility to, 13

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 total
32 16 263 194 43 4 529

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
GABRA1 29 15 261 194 43 4 523
GABRA1, GABRA6, GABRB2, GABRG2 1 0 1 0 0 0 2
GABRA1, GABRG2 1 1 0 0 0 0 2
GABRA1, GABRA6 0 0 1 0 0 0 1
GABRA1, GABRA6, GABRG2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Labcorp Genetics (formerly Invitae), Labcorp 26 10 177 190 37 0 440
Illumina Laboratory Services, Illumina 0 0 86 4 8 0 98
Uskudar University, Department of Molecular Biology and Genetics, Uskudar University 5 0 0 0 0 0 5
OMIM 0 0 0 0 0 4 4
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 0 2
Mendelics 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1

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