ClinVar Miner

Variants studied for Combined oxidative phosphorylation defect type 17

Coded as:
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
54 26 394 477 34 975

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ELAC2 54 26 394 477 34 975

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 49 17 387 476 33 962
Genome-Nilou Lab 0 0 0 0 9 9
Revvity Omics, Revvity 1 1 4 0 0 6
Baylor Genetics 1 1 3 0 0 5
OMIM 4 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 2 0 0 0 4
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 3 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Mendelics 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1 0 2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 1 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 2
3billion 0 1 1 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 1 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 1

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