ClinVar Miner

Variants studied for Neurofibromatosis, type 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 risk factor not provided total
4189 878 4784 3589 365 1 14 12869

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
NF1 4054 852 4696 3544 361 1 13 12584
LOC111811965, MIR4733HG, NF1 36 13 77 36 1 0 0 153
EVI2A, EVI2B, NF1, OMG 44 4 5 0 0 0 0 53
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
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
LOC108281170, LOC108281180, NF1 3 0 0 0 0 0 0 3
LOC108281182, LOC125177454, NF1 3 0 0 0 0 0 0 3
SPRED1 0 3 0 0 0 0 0 3
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, LRRC37B, 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
C19orf12 0 1 0 0 0 0 0 1
DCAF8 0 0 1 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
NF2 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 143
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3676 315 4144 3525 297 0 0 11957
Genome-Nilou Lab 465 129 954 560 88 0 0 2196
Genome Diagnostics Laboratory, The Hospital for Sick Children 185 97 66 23 25 0 0 396
Center for Human Genetics, Inc, Center for Human Genetics, Inc 104 111 40 8 0 0 0 263
Medical Genetics, University of Parma 119 64 33 12 9 0 0 237
UAB Medical Genomics Laboratory, UAB Medicine 187 0 0 0 0 0 0 187
Illumina Laboratory Services, Illumina 8 1 107 25 29 0 0 170
Mendelics 49 9 41 16 7 0 0 122
NHS Central & South Genomic Laboratory Hub 89 28 3 1 0 0 0 121
Juno Genomics, Hangzhou Juno Genomics, Inc 72 26 7 0 0 0 0 105
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 76 18 5 0 0 0 0 99
3billion 58 20 10 0 0 0 0 88
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 45 25 0 0 0 0 0 70
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 47 16 0 0 0 0 0 63
KCCC/NGS Laboratory, Kuwait Cancer Control Center 8 2 0 0 52 0 0 62
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 50 0 6 1 0 0 0 57
MGZ Medical Genetics Center 29 10 18 0 0 0 0 57
Department of Pathology and Laboratory Medicine, Sinai Health System 1 40 1 11 3 0 0 56
Institute of Human Genetics, University of Leipzig Medical Center 32 17 5 0 0 0 0 54
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 21 11 16 0 0 0 0 48
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 9 3 29 0 1 0 0 42
Centre for Mendelian Genomics, University Medical Centre Ljubljana 20 4 10 0 2 0 0 36
OMIM 34 0 0 0 0 0 0 34
Neuberg Centre For Genomic Medicine, NCGM 18 12 0 0 0 0 0 30
Baylor Genetics 12 3 12 0 0 0 0 27
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 22 1 4 0 0 0 0 27
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 17 7 0 0 0 0 0 24
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 16 5 0 0 0 0 0 21
Institute of Medical Genetics, University of Zurich 12 2 1 1 0 0 0 16
Clinical Genomics Laboratory, Washington University in St. Louis 7 0 8 0 0 0 0 15
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 8 6 1 0 0 0 0 15
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 9 5 0 0 0 0 0 14
Genetics and Molecular Pathology, SA Pathology 10 2 2 0 0 0 0 14
Institute of Human Genetics, Medical University Innsbruck 12 0 0 0 0 0 0 12
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 8 0 0 0 0 0 11
Center of Genomic medicine, Geneva, University Hospital of Geneva 8 1 1 0 0 0 0 10
Suma Genomics 10 0 0 0 0 0 0 10
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 6 3 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
Medical Molecular Genetics Department, National Research Center 6 2 0 0 0 0 0 8
Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 6 2 0 0 0 0 0 8
DASA 8 0 0 0 0 0 0 8
MVZ Medizinische Genetik Mainz 6 0 2 0 0 0 0 8
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 7 0 0 0 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 0 7 7
Human Genetics Bochum, Ruhr University Bochum 3 4 0 0 0 0 0 7
Department of Human Genetics, Hannover Medical School 3 3 1 0 0 0 0 7
Institute of Human Genetics, Cologne University 1 3 2 0 0 0 0 6
GeneReviews 0 0 0 0 0 0 6 6
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 5 1 0 0 0 0 0 6
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 2 3 0 1 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 0 0 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 0 1 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
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 1 0 0 0 0 0 4
Institute of Human Genetics, University of Goettingen 2 0 2 0 0 0 0 4
MVZ Dr. Eberhard & Partner Dortmund 2 2 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 1 0 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 2 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
Centogene AG - the Rare Disease Company 1 1 1 0 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 3 0 0 0 0 0 0 3
Department of Research and Development, Institute Hermes Pardini 3 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 0 3
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 2 1 0 0 0 0 0 3
Swedish Neurofibromatosis Center, Swedish Medical Center 2 1 0 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 2 1 0 0 0 0 0 3
New York Genome Center 2 0 1 0 0 0 0 3
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 3 0 0 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 1 1 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
CGC Genetics, Unilabs 0 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 0 2
Department of Medical Genetics, College of Basic Medicine, Army Medical University 2 0 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 0 2
Eurofins-Biomnis 1 1 0 0 0 0 0 2
Laboratori Clínic ICS Lleida, Hospital Universitari Arnau de Vilanova 2 0 0 0 0 0 0 2
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 1 0 0 0 0 2
Dr.Nikuei Genetic Center 2 0 0 0 0 0 0 2
Center of Human Genetics, Hôpital Erasme 1 1 0 0 0 0 0 2
Genetics Department, Catlab 1 1 0 0 0 0 0 2
Department of Neurology, Zibo Changguo Hospital 2 0 0 0 0 0 0 2
Sun Health (Beijing), Ltd. 2 0 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 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
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
KK Women’s and Children’s Hospital 1 0 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 Traditional Chinese Medicine, Fujian Provincial Hospital 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 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
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
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
Hereditary Cancer Clinic, Medical College of Georgia 0 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 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
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 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
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 0 0 1 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
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 0 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
Clinical Genomics, G42 Labs 1 0 0 0 0 0 0 1

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