ClinVar Miner

Variants studied for Mitochondrial DNA depletion syndrome 13

Coded as:
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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
36 47 335 2 7 411

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
FBXL4 36 47 335 2 7 411

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 22 31 320 1 7 381
Baylor Genetics 7 0 7 0 0 14
Revvity Omics, Revvity 2 1 10 0 0 13
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 3 0 0 0 7
OMIM 5 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 2 0 0 5
Fulgent Genetics, Fulgent Genetics 1 3 1 0 0 5
Mendelics 2 2 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 1 0 4
3billion 2 1 0 0 0 3
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 0 0 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 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 1
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 1 0 0 0 1
Suma Genomics 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 1

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