ClinVar Miner

Variants studied for Ataxia-oculomotor apraxia 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 total
13 1 0 1 1 16

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic likely benign benign total
APTX 13 1 1 1 16

Submitter and significance breakdown #

Total submitters: 8
Download table as spreadsheet
Submitter pathogenic likely pathogenic likely benign benign total
OMIM 9 0 0 0 9
Genetic Services Laboratory, University of Chicago 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 1 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 1 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.