ClinVar Miner

Variants studied for adolescent/adult-onset epilepsy syndrome

Included ClinVar conditions (10):
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
3 3 291 156 45 1 7 3 479

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
EFHC1 2 0 242 107 32 1 7 1 363
CACNB4 0 0 41 45 12 0 0 0 97
GABRA1 0 2 6 0 0 0 0 0 8
CACNB4, LOC129934925 0 0 1 4 1 0 0 0 6
CACNA1G 0 0 0 0 0 0 0 2 2
CAPRIN1 1 0 0 0 0 0 0 0 1
CHRNA1 0 0 1 0 0 0 0 0 1
SNAP25 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 0 0 184 85 29 0 0 0 298
Illumina Laboratory Services, Illumina 0 0 97 69 16 0 0 0 181
Fulgent Genetics, Fulgent Genetics 0 0 11 2 0 0 0 0 13
OMIM 0 0 1 0 0 0 7 0 8
Athena Diagnostics Inc 0 0 0 0 7 0 0 0 7
Baylor Genetics 1 0 3 0 0 0 0 0 4
New York Genome Center 0 0 4 0 0 0 0 0 4
Mendelics 0 2 1 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
MGZ Medical Genetics Center 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 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 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 0 0 1

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