ClinVar Miner

Variants studied for adolescence-adult electroclinical syndrome

Included ClinVar conditions (13):
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
7 1 208 101 47 10 2 356

Gene and significance breakdown #

Total genes and gene combinations: 8
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
EFHC1 2 0 100 31 26 0 1 146
CACNB4 1 0 44 49 13 1 0 105
GABRA1 3 1 60 21 7 4 0 93
CLCN2 0 0 3 0 1 1 0 5
ICK 0 0 0 0 0 4 0 4
CACNA1G 0 0 0 0 0 0 1 1
CHRNA1 0 0 1 0 0 0 0 1
CHRNA7 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 137 78 16 0 0 230
Invitae 4 0 60 23 26 0 0 113
OMIM 0 0 1 0 0 10 0 11
Fulgent Genetics 0 0 9 0 0 0 0 9
Athena Diagnostics Inc 0 0 0 0 7 0 0 7
Baylor Miraca Genetics Laboratories, 3 0 0 0 0 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 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 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 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 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 0 0 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.