ClinVar Miner

Variants in gene COA8

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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 total
10 8 74 67 28 174

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 6 2 53 54 27 135
Inborn genetic diseases 0 0 32 0 0 32
Mitochondrial complex 4 deficiency, nuclear type 17 6 5 9 8 2 28
not specified 0 0 0 8 7 15
COA8-related disorder 0 0 0 12 2 14
Mitochondrial complex IV deficiency, nuclear type 1 1 1 2 0 0 4

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 5 0 38 34 13 90
GeneDx 1 1 13 24 24 63
Ambry Genetics 0 0 32 0 0 32
Breakthrough Genomics, Breakthrough Genomics 0 1 2 10 8 21
Fulgent Genetics, Fulgent Genetics 1 0 8 7 1 17
PreventionGenetics, part of Exact Sciences 0 0 0 12 2 14
Mayo Clinic Laboratories, Mayo Clinic 0 1 2 0 4 7
CeGaT Center for Human Genetics Tuebingen 0 0 2 5 0 7
OMIM 4 0 0 0 0 4
Baylor Genetics 1 0 1 0 0 2
Revvity Omics, Revvity 0 1 0 1 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 2
3billion 1 1 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Department of Pathophysiology and Transplantation, University of Milan 1 0 0 0 0 1

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