ClinVar Miner

Variants studied for Treacher Collins syndrome 1

Coded as:
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 not provided total
112 33 159 195 82 1 571

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 108 31 155 191 79 1 555
LOC129994985, TCOF1 3 0 2 1 0 0 6
LOC129994989, TCOF1 0 1 1 1 2 0 5
LOC129994988, LOC129994989, TCOF1 1 1 0 0 0 0 2
LOC129994988, TCOF1 0 0 1 1 1 0 2
LOC129994986, TCOF1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 82 6 144 177 76 0 485
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 0 0 2 19 5 0 26
3billion 5 12 2 0 0 0 19
OMIM 11 0 0 0 0 0 11
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 0 0 0 5
Medical Molecular Genetics Department, National Research Center 1 4 0 0 0 0 5
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 3 0 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 1 2 1 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Autoinflammatory diseases unit, CHU de Montpellier 2 1 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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
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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 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

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