ClinVar Miner

Variants in gene COQ9

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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
15 6 124 127 25 1 277

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 12 2 88 112 24 0 231
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 6 5 24 9 7 1 49
Inborn genetic diseases 1 0 29 1 0 0 31
COQ9-related disorder 0 0 2 11 2 0 15
not specified 0 0 0 7 7 0 14
Leigh syndrome 0 0 1 0 1 0 2
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 12 2 78 98 11 0 201
GeneDx 0 0 15 21 18 0 54
Illumina Laboratory Services, Illumina 0 0 21 7 6 0 34
Ambry Genetics 1 0 29 1 0 0 31
PreventionGenetics, part of Exact Sciences 0 0 2 11 2 0 15
Breakthrough Genomics, Breakthrough Genomics 0 0 1 2 12 0 15
CeGaT Center for Human Genetics Tuebingen 0 0 0 4 1 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 3 0 4
Revvity Omics, Revvity 1 2 1 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 2 0 4
Fulgent Genetics, Fulgent Genetics 0 0 1 3 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 0 1 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 1 0 3
OMIM 2 0 0 0 0 0 2
Baylor Genetics 0 0 2 0 0 0 2
GeneReviews 1 0 0 0 0 1 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1

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