ClinVar Miner

Variants studied for Combined oxidative phosphorylation defect type 14

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 not provided total
62 33 211 173 20 1 473

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FARS2 41 20 120 108 11 0 284
FARS2, LOC126859565 15 11 88 65 9 1 178
FARS2, LYRM4 4 1 2 0 0 0 7
F13A1, FARS2, LYRM4, NRN1 1 0 0 0 0 0 1
F13A1, FARS2, NRN1 0 0 1 0 0 0 1
FARS2, LOC121099722, LOC126859565, LOC129995674, LOC129995675, LOC129995676, LOC129995677, LOC129995678 0 1 0 0 0 0 1
FARS2, LOC126859565, LOC129995678 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 51 13 196 167 14 0 441
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 1 13 19 10 11 0 54
Baylor Genetics 0 0 9 0 0 0 9
OMIM 6 0 0 0 0 0 6
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades 5 0 0 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 2 0 0 0 0 4
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 2 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 2 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion, Medical Genetics 0 1 0 0 0 0 1

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