ClinVar Miner

Variants studied for Autosomal recessive ataxia due to ubiquinone deficiency

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
33 33 78 11 26 19 175

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COQ8A 32 33 77 11 25 19 172
CDC42BPA, COQ8A, LOC126806036, LOC129388764, LOC129932683 1 0 0 0 0 0 1
COQ8A, LOC129932681 0 0 1 0 0 0 1
COQ8A, LOC129932682 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 3 57 5 18 0 84
GeneReviews 1 0 0 0 0 18 19
OMIM 11 0 0 0 0 0 11
Genome-Nilou Lab 0 0 0 0 11 0 11
Baylor Genetics 0 2 8 0 0 0 10
Genetic Services Laboratory, University of Chicago 4 5 0 0 0 0 9
Revvity Omics, Revvity 1 6 2 0 0 0 9
Fulgent Genetics, Fulgent Genetics 1 0 2 4 2 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 5 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 5 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 0 2 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 3 0 0 0 0 5
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 4 1 0 0 0 0 5
Solve-RD Consortium 0 5 0 0 0 0 5
Mendelics 4 0 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 1 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 2 0 0 0 4
3billion 1 2 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 2 0 0 0 2
Applied Translational Genetics Group, University of Auckland 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 1 0 2
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 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 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Medical Genetics Laboratory, Tarbiat Modares University 1 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1

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