ClinVar Miner

Variants studied for Treacher Collins syndrome 1

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
128 42 189 235 83 1 665

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TCOF1 124 40 186 229 80 1 648
LOC129994985, TCOF1 3 0 2 1 0 0 6
LOC129994989, TCOF1 0 1 1 1 2 0 5
LOC129994988, TCOF1 0 0 0 3 1 0 3
LOC129994988, LOC129994989, TCOF1 1 1 0 0 0 0 2
LOC129994986, TCOF1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 87 7 169 216 77 0 556
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 0 0 2 19 5 0 26
3billion 5 13 4 0 0 0 22
OMIM 11 0 0 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 2 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 7 0 0 0 0 0 7
Revvity Omics, Revvity 1 0 5 0 0 0 6
Mendelics 3 0 1 1 1 0 6
Johns Hopkins Genomics, Johns Hopkins University 4 0 1 1 0 0 6
Fulgent Genetics, Fulgent Genetics 0 1 1 2 1 0 5
Medical Molecular Genetics Department, National Research Center 1 4 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 1 0 0 5
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 3 0 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 1 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 1 2 0 0 0 0 3
Autoinflammatory diseases unit, CHU de Montpellier 2 1 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Institute of Rare Diseases, West China Hospital, Sichuan University 0 1 0 0 0 0 1
Centro de Investigación Genética Y Genómica, Universidad UTE 0 1 0 0 0 0 1

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