ClinVar Miner

Variants studied for neurofibromatosis

Included ClinVar conditions (26):
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 risk factor not provided total
4512 1032 6070 4282 436 1 31 15245

Gene and significance breakdown #

Total genes and gene combinations: 52
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
NF1 4078 850 4755 3560 355 1 26 12628
NF2 227 38 896 672 58 0 1 1809
LZTR1 45 114 274 1 0 0 2 412
LOC111811965, MIR4733HG, NF1 36 12 77 36 1 0 0 152
SMARCB1 13 2 24 3 15 0 1 58
EVI2A, EVI2B, NF1, OMG 44 4 5 0 0 0 0 53
LOC130067016, LZTR1 3 4 13 0 0 0 0 20
LOC130067184, NF2 0 0 11 0 4 0 0 15
MIR4733HG, NF1 0 0 0 7 1 0 0 8
EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965, LOC125177454, LOC130060654, LOC130060655, LOC130060656, MIR4733HG, NF1, OMG 5 0 2 0 0 0 0 7
EVI2A, NF1 3 3 0 1 0 0 0 6
LOC108281182, NF1 6 0 0 0 0 0 0 6
RNF135 0 0 6 0 0 0 0 6
LOC108281181, NF1 5 0 0 0 0 0 0 5
NF1, OMG 4 1 0 0 0 0 0 5
LOC108281180, NF1 4 0 0 0 0 0 0 4
LOC130067183, LOC130067184, NF2 4 0 0 0 0 0 0 4
LOC108281170, LOC108281180, NF1 3 0 0 0 0 0 0 3
LOC108281182, LOC125177454, NF1 3 0 0 0 0 0 0 3
SPRED1 0 2 1 0 0 0 0 3
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LRRC37B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 2 0 0 0 0 0 0 2
DERL3, SMARCB1 0 0 2 0 0 0 0 2
EVI2A, EVI2B, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC125177454, LOC130060654, LOC130060655, LOC130060656, NF1, OMG 2 0 0 0 0 0 0 2
EVI2A, EVI2B, LOC108281182, LOC125177454, LOC130060654, LOC130060655, LOC130060656, NF1, OMG 2 0 0 0 0 0 0 2
EVI2A, EVI2B, LOC130060654, LOC130060655, LOC130060656, NF1, OMG 2 0 0 0 0 0 0 2
LOC108281169, LOC108281170, LOC108281180, LOC111811965, MIR4733HG, NF1 1 0 1 0 0 0 0 2
LOC108281169, LOC108281170, NF1 2 0 0 0 0 0 0 2
ABHD15, ADAP2, ANKRD13B, ATAD5, BLMH, CORO6, CPD, CRLF3, CRYBA1, EFCAB5, GIT1, GOSR1, NF1, NSRP1, NUFIP2, RNF135, SLC6A4, SSH2, TAOK1, TBC1D29P, TEFM, TMIGD1, TP53I13 1 0 0 0 0 0 0 1
ADAP2, ATAD5, BLMH, CPD, CRLF3, GOSR1, NF1, OMG, RNF135, SLC6A4, TBC1D29P, TEFM, TMIGD1 1 0 0 0 0 0 0 1
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 1 0 0 0 0 0 0 1
ADAP2, ATAD5, CRLF3, LOC108281169, LOC108281170, LOC108771181, LOC108783647, LOC108783652, LOC111811965, LOC121587585, LOC129390850, LOC129390851, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, MIR4733, MIR4733HG, NF1, RNF135, TEFM 1 0 0 0 0 0 0 1
AP1B1, ASCC2, C22orf31, CABP7, CCDC117, CHEK2, EMID1, EWSR1, GAS2L1, HSCB, KREMEN1, MTMR3, NEFH, NF2, NIPSNAP1, RASL10A, RFPL1, RFPL1S, RHBDD3, THOC5, UQCR10, XBP1, ZMAT5, ZNRF3 1 0 0 0 0 0 0 1
AP1B1, C22orf31, CCDC117, CHEK2, EMID1, EWSR1, GAS2L1, HSCB, KREMEN1, NEFH, NF2, NIPSNAP1, RASL10A, RFPL1, RFPL1S, RHBDD3, THOC5, XBP1, ZNRF3 1 0 0 0 0 0 0 1
AP1B1, EMID1, EWSR1, GAS2L1, NEFH, NF2, NIPSNAP1, RASL10A, RFPL1, RFPL1S, RHBDD3, THOC5 1 0 0 0 0 0 0 1
BCR, C22orf15, CHCHD10, DERL3, DRICH1, GGTLC2, GNAZ, IGLC1, IGLL1, IGLL5, MMP11, PRAME, RAB36, RGL4, RSPH14, SMARCB1, VPREB3, ZNF70 1 0 0 0 0 0 0 1
C19orf12 0 1 0 0 0 0 0 1
DCAF8 0 0 1 0 0 0 0 1
ERG, EWSR1 1 0 0 0 0 0 0 1
EVI2A, EVI2B, LOC108281181, LOC108281182, LOC125177454, LOC130060654, LOC130060655, LOC130060656, NF1, OMG 1 0 0 0 0 0 0 1
EVI2A, EVI2B, LOC108281181, LOC108281182, LOC130060654, LOC130060655, LOC130060656, NF1, OMG 1 0 0 0 0 0 0 1
EVI2A, EVI2B, LOC108281181, LOC130060654, LOC130060655, LOC130060656, NF1, OMG 1 0 0 0 0 0 0 1
EVI2A, EVI2B, LOC130060654, LOC130060655, LOC130060656, NF1 1 0 0 0 0 0 0 1
EVI2A, EVI2B, NF1, OMG, RAB11FIP4 1 0 0 0 0 0 0 1
EVI2B, LOC130060654, NF1, OMG 1 0 0 0 0 0 0 1
EVI2B, NF1 0 0 0 1 1 0 0 1
GABBR1 0 1 0 0 0 0 0 1
LOC106113036, NF1 0 0 1 0 1 0 1 1
LOC108281169, LOC108281170, LOC108281180, NF1 1 0 0 0 0 0 0 1
LOC108281169, LOC111811965, MIR4733HG, NF1 1 0 0 0 0 0 0 1
LOC108281180, LOC108281181, NF1 1 0 0 0 0 0 0 1
MAP2K2 0 0 0 1 0 0 0 1
PTPN11 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 164
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3858 335 4837 4155 324 0 0 13509
Genome-Nilou Lab 474 130 1033 579 102 0 0 2318
Fulgent Genetics, Fulgent Genetics 48 41 364 96 0 0 0 549
Genome Diagnostics Laboratory, The Hospital for Sick Children 185 97 66 23 25 0 0 396
Illumina Laboratory Services, Illumina 7 3 258 58 94 0 0 389
Baylor Genetics 33 81 261 0 0 0 0 374
Center for Human Genetics, Inc, Center for Human Genetics, Inc 110 117 40 8 0 0 0 275
All of Us Research Program, National Institutes of Health 0 3 175 80 5 0 0 263
Medical Genetics, University of Parma 119 64 33 12 9 0 0 237
UAB Medical Genomics Laboratory, UAB Medicine 190 0 0 0 0 0 0 190
Juno Genomics, Hangzhou Juno Genomics, Inc 102 43 18 0 0 0 0 163
Mendelics 63 10 56 20 12 0 0 161
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 77 18 5 0 0 0 0 100
3billion, Medical Genetics 55 18 8 1 0 0 0 82
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 52 27 0 0 0 0 0 79
KCCC/NGS Laboratory, Kuwait Cancer Control Center 8 1 0 26 44 0 0 79
NHS Central & South Genomic Laboratory Hub 58 19 0 0 0 0 0 77
OMIM 72 0 4 0 0 0 0 76
MGZ Medical Genetics Center 34 18 21 0 0 0 0 73
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 28 14 22 0 0 0 0 64
Institute of Human Genetics, University of Leipzig Medical Center 35 22 5 0 0 0 0 62
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 52 0 6 1 0 0 0 59
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 43 15 1 0 0 0 0 59
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 11 3 37 0 1 0 0 52
Centre for Mendelian Genomics, University Medical Centre Ljubljana 21 7 11 0 2 0 0 41
Genetics and Molecular Pathology, SA Pathology 24 6 9 0 0 0 0 39
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 37 1 1 0 0 0 0 39
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 27 3 5 0 0 0 0 35
Neuberg Centre For Genomic Medicine, NCGM 19 12 2 0 0 0 0 33
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 18 8 0 0 0 0 0 26
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 16 9 0 0 0 0 0 25
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 17 5 0 0 0 0 0 22
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 8 9 1 0 0 0 0 18
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 11 5 0 0 0 0 0 16
Institute of Medical Genetics, University of Zurich 12 2 1 1 0 0 0 16
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 16 16
Clinical Genomics Laboratory, Washington University in St. Louis 5 0 8 0 0 0 0 13
Color Diagnostics, LLC DBA Color Health 0 0 2 7 4 0 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 7 0 5 0 1 0 0 13
Institute of Human Genetics, Medical University Innsbruck 12 0 0 0 0 0 0 12
Center of Genomic medicine, Geneva, University Hospital of Geneva 10 1 1 0 0 0 0 12
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 8 0 0 0 0 0 12
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 7 5 0 0 0 0 0 12
Suma Genomics 11 0 0 0 0 0 0 11
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 9 0 0 0 0 0 0 9
Johns Hopkins Genomics, Johns Hopkins University 2 1 5 1 0 0 0 9
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 9 0 0 0 0 0 0 9
New York Genome Center 3 0 6 0 0 0 0 9
DASA 8 1 0 0 0 0 0 9
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 6 0 2 0 0 0 0 8
Medical Molecular Genetics Department, National Research Center 6 2 0 0 0 0 0 8
Human Genetics Bochum, Ruhr University Bochum 4 4 0 0 0 0 0 8
Revvity Omics, Revvity 1 0 6 0 0 0 0 7
GeneReviews 0 0 0 0 0 0 7 7
GenomeConnect, ClinGen 0 0 0 0 0 0 7 7
ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Iran University of Medical Sciences 7 0 0 0 0 0 0 7
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 2 3 1 1 0 0 0 7
MVZ Medizinische Genetik Mainz 6 0 1 0 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 0 0 0 0 0 0 6
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 5 1 0 0 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 1 3 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 1 2 3 0 0 0 0 6
Department of Human Genetics, Hannover Medical School 2 3 1 0 0 0 0 6
Institute of Human Genetics, Cologne University 1 2 2 0 0 0 0 5
MVZ Dr. Eberhard & Partner Dortmund 3 2 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 1 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 1 0 0 0 0 5
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 0 3 0 0 0 0 5
Swedish Neurofibromatosis Center, Swedish Medical Center 2 3 0 0 0 0 0 5
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 4 0 0 0 0 0 5
Institute of Human Genetics, University Hospital Muenster 4 1 0 0 0 0 0 5
Genomics England Pilot Project, Genomics England 2 3 0 0 0 0 0 5
Institute of Human Genetics, University of Goettingen 2 0 2 0 0 0 0 4
Centogene AG - the Rare Disease Company 2 1 1 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 1 0 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 1 0 3 0 0 0 0 4
Pars Genome Lab 4 0 0 0 0 0 0 4
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 4 0 0 0 0 0 0 4
Clinical Genetics and Genomics, Karolinska University Hospital 3 0 0 0 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 2 1 0 0 0 3
Department of Research and Development, Institute Hermes Pardini 3 0 0 0 0 0 0 3
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 2 1 0 0 0 0 0 3
Molecular Oncology Initiative, University of California, San Francisco 3 0 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 1 0 0 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 1 0 0 0 0 3
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 3 0 0 0 0 0 0 3
Eurofins-Biomnis 1 2 0 0 0 0 0 3
Department Of Biochemistry, Hamamatsu University School Of Medicine 1 2 0 0 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 3 0 0 0 0 0 0 3
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 1 1 1 0 0 0 0 3
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 2 1 0 0 0 0 0 3
CGC Genetics, Unilabs 0 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 1 0 0 0 0 0 2
Department of Medical Genetics, College of Basic Medicine, Army Medical University 2 0 0 0 0 0 0 2
Hereditary Cancer Clinic, Medical College of Georgia 1 1 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 1 0 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 0 2
Laboratori Clínic ICS Lleida, Hospital Universitari Arnau de Vilanova 2 0 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 1 0 0 2
Dr.Nikuei Genetic Center 2 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Human Genetics Research Lab, Central University of Jammu 1 0 0 0 0 0 0 1
Department of Medical Genetics, Gazi University 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 0 1
KK Women’s and Children’s Hospital 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 0 1
Carson lab, Ohio State University Comprehensive Cancer Center 1 0 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 0 1
Fan Lab, Zhengzhou University 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 1 0 0 0 0 0 0 1
Institute of Neuropathology, University Medical Center Hamburg-Eppendorf 0 0 0 0 0 1 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 1 0 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 1
Hongqi Zhang Laboratory, Xiangya Hospital, Central South University 0 1 0 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1
Department of Dermatology, Xinhua Hospital, Shanghai Jiao Tong University of Medicine 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 0 1
Fernandez-Valle lab, University of Central Florida 1 0 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 1 0 0 0 0 0 0 1
Epigenetics and Oncology Laboratory, Southwest Medical University 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 1
Unidad Asesoramiento Genetico Oncologico Falp, Instituto Oncologico Fundacion Arturo Lopez Perez 1 0 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 0 1
Genetics Department, Catlab 0 1 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 0 1

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