ClinVar Miner

Variants studied for mandibulofacial dysostosis

Included ClinVar conditions (17):
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
181 86 549 307 224 11 1322

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TCOF1 124 38 182 228 80 5 644
EYA1 8 9 123 33 49 0 212
PDE4D 13 3 102 13 61 0 191
PRKAR1A 6 3 88 17 23 1 136
POLR1C 7 25 24 1 2 0 56
PAX1 6 2 11 0 0 0 17
POLR1D 8 2 3 0 2 1 15
EDNRA 2 0 1 6 3 0 12
POLR1B 3 1 5 0 0 3 9
LOC129996517, POLR1C 0 1 5 0 1 0 7
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
FAM20A, PRKAR1A 0 0 1 1 0 0 2
LOC129994988, LOC129994989, TCOF1 1 1 0 0 0 0 2
ARSG, PRKAR1A, WIPI1 0 0 0 0 0 1 1
DEPDC1B, LOC123493321, LOC123493322, LOC129993942, LOC129993943, LOC129993944, PART1, PDE4D 0 0 1 0 0 0 1
LOC129993939, PDE4D 0 0 0 1 0 0 1
LOC129994986, TCOF1 0 0 0 1 0 0 1
SLC35B2 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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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
Illumina Laboratory Services, Illumina 1 2 212 42 124 0 381
Fulgent Genetics, Fulgent Genetics 9 33 91 31 4 0 168
OMIM 48 0 0 0 0 0 48
Baylor Genetics 2 0 32 0 0 0 34
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 0 0 2 19 5 0 26
3billion, Medical Genetics 7 14 4 1 0 0 26
Genome-Nilou Lab 0 0 0 0 18 0 18
Revvity Omics, Revvity 1 0 12 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 0 6 0 0 0 12
Juno Genomics, Hangzhou Juno Genomics, Inc 8 0 4 0 0 0 12
Mendelics 3 0 2 1 2 0 8
GeneReviews 0 0 0 0 0 8 8
Medical Molecular Genetics Department, National Research Center 1 6 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 5 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 4 0 1 1 0 0 6
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 3 3 0 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 1 0 0 0 5
New York Genome Center 1 0 4 0 0 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 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
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 3
Autoinflammatory diseases unit, CHU de Montpellier 2 1 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 2 0 0 0 3
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 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
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 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
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1
Institute of Rare Diseases, West China Hospital, Sichuan University 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1

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