ClinVar Miner

Variants in gene COQ7

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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
13 5 84 72 17 1 176

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 0 1 74 71 17 0 157
not specified 0 0 18 1 0 0 19
Primary coenzyme Q10 deficiency 8 9 4 5 0 2 1 14
COQ7-related disorder 0 0 3 4 3 0 10
Neuronopathy, distal hereditary motor, autosomal recessive 9 6 1 0 0 0 0 6

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 66 59 6 0 131
GeneDx 0 1 11 11 15 0 38
Ambry Genetics 0 0 17 1 0 0 18
Breakthrough Genomics, Breakthrough Genomics 0 0 1 3 9 0 13
OMIM 10 0 0 0 0 0 10
PreventionGenetics, part of Exact Sciences 0 0 3 4 3 0 10
CeGaT Center for Human Genetics Tuebingen 0 0 1 4 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Computational Genomics, IRCCS Azienda Ospedaliero-universitaria Di Bologna 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1

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