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
3711 737 4485 3102 206 1 14 11671

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
NF1 3593 721 4407 3062 202 1 13 11424
LOC111811965, MIR4733HG, NF1 33 10 69 31 1 0 0 138
EVI2A, EVI2B, NF1, OMG 35 4 4 0 0 0 0 43
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
LOC108281182, NF1 6 0 0 0 0 0 0 6
LOC108281181, NF1 5 0 0 0 0 0 0 5
LOC108281180, NF1 4 0 0 0 0 0 0 4
EVI2A, NF1 2 1 0 1 0 0 0 3
LOC108281170, LOC108281180, NF1 3 0 0 0 0 0 0 3
LOC108281182, LOC125177454, NF1 3 0 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
NF1, OMG 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, 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
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
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: 116
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 3237 284 4128 3039 153 0 0 10841
Genome-Nilou Lab 465 129 954 560 88 0 0 2196
Genome Diagnostics Laboratory, The Hospital for Sick Children 185 91 72 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
Medical Genomics Laboratory, Department of Genetics UAB 187 0 0 0 0 0 0 187
Illumina Laboratory Services, Illumina 6 1 109 25 29 0 0 170
Mendelics 49 9 42 16 7 0 0 123
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 75 17 5 0 0 0 0 97
3billion 46 16 6 0 0 0 0 68
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
Institute of Human Genetics, University of Leipzig Medical Center 24 13 5 0 0 0 0 42
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 22 17 0 0 0 0 0 39
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 32 7 0 0 0 0 0 39
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 9 5 24 0 0 0 0 38
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
Baylor Genetics 10 3 12 0 0 0 0 25
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 3 0 18 0 1 0 0 22
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 16 5 0 0 0 0 0 21
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 14 6 0 0 0 0 0 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 1 2 0 0 0 0 19
Institute of Medical Genetics, University of Zurich 12 2 1 1 0 0 0 16
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
Neuberg Centre For Genomic Medicine, NCGM 7 6 0 0 0 0 0 13
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
DASA 8 0 0 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
GeneReviews 0 0 0 0 0 0 6 6
Clinical Genomics Laboratory, Washington University in St. Louis 4 0 2 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
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 3 0 2 0 0 0 0 5
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 4 0 0 0 0 0 5
KCCC/NGS Laboratory, Kuwait Cancer Control Center 4 1 0 0 0 0 0 5
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
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
Institute of Human Genetics, University Hospital Muenster 3 1 0 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
Institute of Human Genetics, University of Goettingen 2 0 1 0 0 0 0 3
Institute of Human Genetics, Cologne University 1 1 1 0 0 0 0 3
Centogene AG - the Rare Disease Company 1 1 1 0 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
Swedish Neurofibromatosis Center, Swedish Medical Center 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
MVZ Dr. Eberhard & Partner Dortmund 2 0 0 0 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 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
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 1 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
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 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
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 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 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
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
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
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
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
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
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
Unidad Asesoramiento Genetico Oncologico Falp, Instituto Oncologico Fundacion Arturo Lopez Perez 1 0 0 0 0 0 0 1

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