ClinVar Miner

Variants studied for Juvenile myoclonic epilepsy

Coded as:
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 not provided total
2 0 138 78 23 1 236

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
CACNB4 0 41 49 13 0 103
EFHC1 2 50 20 10 1 77
GABRA1 0 46 9 0 0 55
CHRNA1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 6
Download table as spreadsheet
Submitter pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 137 78 16 0 230
Athena Diagnostics Inc 0 0 0 7 0 7
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 1
Invitae 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.