ClinVar Miner

Variants studied for autosomal recessive ataxia due to ubiquinone deficiency

Included ClinVar conditions (1):
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
30 12 70 7 19 133

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COQ8A 29 12 70 7 19 132
CDC42BPA, COQ8A 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 58 5 18 82
GeneReviews 19 0 0 0 0 19
OMIM 11 0 0 0 0 11
Genetic Services Laboratory, University of Chicago 4 5 0 0 0 9
Baylor Genetics 0 1 6 0 0 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 5 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 5 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 2 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 2 1 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 2 2
Mendelics 2 0 0 0 0 2
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 2 0 0 2
Applied Translational Genetics Group,University of Auckland 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 1
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Medical Genetics Laboratory,Tarbiat Modares University 1 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.