ClinVar Miner

Variants in gene COQ8A

Minimum submission review status: Collection method:
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Gene type:
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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
37 33 138 82 63 288

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 14 15 49 41 40 150
Coenzyme Q10 deficiency, primary, 4 29 12 70 7 19 132
not specified 0 0 18 34 29 77
Autosomal recessive cerebellar ataxia 0 0 21 6 7 34
Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 0 0 24 3 4 31
Coenzyme Q10 deficiency, primary 1 0 2 2 0 0 4
Inborn genetic diseases 0 3 1 0 0 4
Mitochondrial diseases 0 3 0 0 0 3
See cases 0 2 1 0 0 3
ADCK3-Related Disorders 0 0 2 0 0 2
Cerebellar ataxia; Nystagmus; Cerebellar atrophy; Dysmetria; Slurred speech; Dysdiadochokinesis; Slightly reduced reflexes 0 1 0 0 0 1
Joubert syndrome 17 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 6 11 12 33 37 99
Illumina Clinical Services Laboratory,Illumina 0 1 69 14 21 91
Athena Diagnostics Inc 1 3 39 8 22 73
Invitae 1 0 6 31 14 52
GeneReviews 18 0 0 0 0 18
Genetic Services Laboratory, University of Chicago 4 5 0 3 0 12
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 9 12
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 3 5 0 12
OMIM 11 0 0 0 0 11
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 5 0 4 11
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 2 4
Ambry Genetics 0 3 1 0 0 4
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
Wellcome Centre for Mitochondrial Research,Newcastle University 0 3 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 1 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 1 2 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 1 2
Mendelics 2 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 2
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 2 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 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
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 1
Medical Genetics Laboratory,Tarbiat Modares University 1 0 0 0 0 1

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