ClinVar Miner

Variants in gene FARS2

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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
41 29 149 122 35 344

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Combined oxidative phosphorylation defect type 14 40 20 119 108 11 283
not provided 4 10 27 12 21 71
Inborn genetic diseases 2 1 20 4 0 27
not specified 0 0 4 5 8 17
FARS2-related disorder 5 2 1 5 0 12
Hereditary spastic paraplegia 77 3 3 5 0 1 10
See cases 0 2 0 1 0 3
Combined oxidative phosphorylation defect type 14; Hereditary spastic paraplegia 77 1 0 1 0 0 2
Leigh syndrome 1 0 0 0 0 1
Schizophrenia 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 32 11 112 106 7 268
GeneDx 3 8 14 14 22 61
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 7 10 7 5 29
Ambry Genetics 2 1 20 4 0 27
PreventionGenetics, part of Exact Sciences 1 1 1 5 1 9
Baylor Genetics 1 0 7 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 4 0 0 8
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 7 0 0 7
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 7 7
OMIM 6 0 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 1 3 0 1 5
CeGaT Center for Human Genetics Tuebingen 1 1 1 1 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 2 0 2 0 0 4
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades 4 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 1 1 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 3
3billion 0 2 1 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 2 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Mendelics 0 0 0 1 0 1
Bionano Laboratories 0 0 1 0 0 1
ISCA Site 6 0 0 0 1 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 1

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