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
27 25 94 53 47 212

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 8 13 30 10 27 86
not specified 0 0 18 36 24 74
Autosomal recessive cerebellar ataxia 0 0 41 10 8 59
Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 0 0 40 9 8 57
Coenzyme Q10 deficiency, primary, 4 23 9 6 3 6 44
Inborn genetic diseases 0 3 1 0 0 4
Coenzyme Q10 deficiency, primary 1 0 1 2 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

Submitter and significance breakdown #

Total submitters: 25
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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 44 10 8 62
Athena Diagnostics Inc 1 1 26 9 4 41
GeneReviews 18 0 0 0 0 18
Genetic Services Laboratory, University of Chicago 4 5 0 3 0 12
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 9 12
OMIM 11 0 0 0 0 11
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 5 0 4 11
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
Ambry Genetics 0 3 1 0 0 4
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 2 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 1 3
SingHealth Duke-NUS Institute of Precision Medicine 0 1 2 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 1
Mendelics 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1

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