ClinVar Miner

Variants in gene COQ8B

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 likely risk allele not provided total
29 22 104 138 40 1 12 291

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
not provided 15 9 89 125 39 0 1 256
Nephrotic syndrome, type 9 19 10 15 2 3 0 11 43
not specified 0 0 3 14 18 0 0 35
COQ8B-related disorder 0 0 2 13 1 0 0 16
Inborn genetic diseases 0 1 7 1 0 0 0 9
Kidney disorder 0 0 0 4 2 0 0 6
Retinitis pigmentosa 0 4 0 0 0 1 0 5
Focal segmental glomerulosclerosis 0 0 1 0 0 0 0 1
Mitochondrial disease 0 0 1 0 0 0 0 1
Nephrotic syndrome 0 1 0 0 0 0 0 1
See cases 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 13 6 55 91 28 0 0 193
GeneDx 1 2 37 42 31 0 0 113
Breakthrough Genomics, Breakthrough Genomics 0 0 1 6 18 0 0 25
PreventionGenetics, part of Exact Sciences 0 0 2 13 1 0 0 16
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 4 6 0 0 15
CeGaT Center for Human Genetics Tuebingen 2 1 3 8 1 0 0 15
Precision Medicine Center, Zhengzhou University 5 2 5 0 0 0 0 12
GeneReviews 0 0 0 0 0 0 11 11
Ambry Genetics 0 1 7 1 0 0 0 9
OMIM 7 0 0 0 0 0 0 7
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 0 4 2 0 0 6
Genetic Services Laboratory, University of Chicago 0 0 3 1 2 0 0 6
3billion 2 1 2 0 0 0 0 5
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 4 0 0 0 1 0 5
Baylor Genetics 1 0 3 0 0 0 0 4
Revvity Omics, Revvity 1 0 3 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 1 0 1 2 0 0 0 4
Molecular Biology Laboratory, Fundació Puigvert 1 3 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 1 0 0 0 0 3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 3 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 0 1 1 0 0 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 1 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Arcensus 0 1 0 0 0 0 0 1

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