ClinVar Miner

Variants studied for Episodic ataxia type 1

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
17 10 302 152 58 5 534

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KCNA1 17 10 280 146 57 5 505
KCNA1, LOC130007218 0 0 19 6 1 0 26
AKAP3, ANO2, C12orf4, DYRK4, FGF23, FGF6, GALNT8, KCNA1, KCNA5, KCNA6, NDUFA9, NTF3, RAD51AP1, VWF 0 0 1 0 0 0 1
AKAP3, C12orf4, CCND2, DYRK4, FGF23, FGF6, GALNT8, KCNA1, KCNA5, KCNA6, NDUFA9, RAD51AP1, TIGAR 0 0 1 0 0 0 1
KCNA1, KCNA5 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 7 1 202 150 7 0 367
Illumina Laboratory Services, Illumina 0 0 95 1 56 0 152
Fulgent Genetics, Fulgent Genetics 0 0 9 7 1 0 17
OMIM 11 0 0 0 0 0 11
Revvity Omics, Revvity 0 1 5 0 0 0 6
GeneReviews 1 0 0 0 0 3 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 0 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
3billion 0 1 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 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.