ClinVar Miner

Variants studied for Neurofibromatosis, type 1

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
4596 962 5018 3922 442 16 13791

Gene and significance breakdown #

Total genes and gene combinations: 50
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NF1 4453 932 4928 3868 435 15 13483
LOC111811965, MIR4733HG, NF1 41 15 73 39 1 0 156
EVI2A, EVI2B, NF1, OMG 44 4 5 0 0 0 53
MIR4733HG, NF1 0 0 0 9 1 0 10
EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965, LOC125177454, LOC130060654, LOC130060655, LOC130060656, MIR4733HG, NF1, OMG 5 0 2 0 0 0 7
LOC108281182, NF1 7 0 0 0 0 0 7
EVI2A, NF1 3 3 0 1 0 0 6
LOC108281181, NF1 5 0 0 0 0 0 5
NF1, OMG 4 1 0 0 0 0 5
SPRED1 1 4 0 0 0 0 5
LOC108281180, NF1 4 0 0 0 0 0 4
LOC108281170, LOC108281180, NF1 3 0 0 0 0 0 3
LOC108281182, LOC125177454, NF1 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 2
EVI2A, EVI2B, LOC108281182, LOC125177454, LOC130060654, LOC130060655, LOC130060656, NF1, OMG 2 0 0 0 0 0 2
EVI2A, EVI2B, LOC130060654, LOC130060655, LOC130060656, NF1, OMG 2 0 0 0 0 0 2
EVI2B, NF1 0 0 1 1 1 0 2
LOC108281169, LOC108281170, LOC108281180, LOC111811965, MIR4733HG, NF1 1 0 1 0 0 0 2
LOC108281169, LOC108281170, NF1 2 0 0 0 0 0 2
NOTCH1 0 0 1 1 0 0 2
SPG11 0 0 0 0 2 0 2
ABCA1 0 1 0 0 0 0 1
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 1
ADAP2, ATAD5, BLMH, CPD, CRLF3, GOSR1, NF1, OMG, RNF135, SLC6A4, TBC1D29P, TEFM, TMIGD1 1 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 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 1
ARID1B 0 0 1 0 0 0 1
BRPF1 0 0 0 1 0 0 1
C19orf12 0 1 0 0 0 0 1
CDH15 0 0 0 1 0 0 1
DCAF8 0 0 1 0 0 0 1
EVI2A, EVI2B, LOC108281181, LOC108281182, LOC125177454, LOC130060654, LOC130060655, LOC130060656, NF1, OMG 1 0 0 0 0 0 1
EVI2A, EVI2B, LOC108281181, LOC108281182, LOC130060654, LOC130060655, LOC130060656, NF1, OMG 1 0 0 0 0 0 1
EVI2A, EVI2B, LOC108281181, LOC130060654, LOC130060655, LOC130060656, NF1, OMG 1 0 0 0 0 0 1
EVI2A, EVI2B, LOC130060654, LOC130060655, LOC130060656, NF1 1 0 0 0 0 0 1
EVI2A, EVI2B, NF1, OMG, RAB11FIP4 1 0 0 0 0 0 1
EVI2B, LOC130060654, NF1, OMG 1 0 0 0 0 0 1
EXT1 1 0 0 0 0 0 1
GABBR1 0 1 0 0 0 0 1
HECW2 0 0 0 1 0 0 1
HNF1A 1 0 0 0 0 0 1
LOC106113036, NF1 0 0 1 0 1 1 1
LOC108281169, LOC108281170, LOC108281180, NF1 1 0 0 0 0 0 1
LOC108281169, LOC111811965, MIR4733HG, NF1 1 0 0 0 0 0 1
LOC108281180, LOC108281181, NF1 1 0 0 0 0 0 1
LOC130068621, NDUFA1 0 0 0 0 1 0 1
NF2 0 0 1 0 0 0 1
RORA 0 0 1 0 0 0 1
TLK2 0 0 1 0 0 0 1
WDR26 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 176
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 4055 297 4232 3855 372 0 12811
Genome-Nilou Lab 465 129 954 560 88 0 2196
Genome Diagnostics Laboratory, The Hospital for Sick Children 185 97 66 23 25 0 396
Center for Human Genetics, Inc, Center for Human Genetics, Inc 104 111 40 8 0 0 263
Medical Genetics, University of Parma 119 64 33 12 9 0 237
NHS Central & South Genomic Laboratory Hub 154 43 8 1 0 0 206
UAB Medical Genomics Laboratory, UAB Medicine 187 0 0 0 0 0 187
3billion 102 37 21 0 0 0 160
Illumina Laboratory Services, Illumina 8 1 98 22 28 0 157
Mendelics 50 10 40 17 7 0 124
Juno Genomics, Hangzhou Juno Genomics, Inc 79 29 7 0 0 0 115
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 76 18 5 0 0 0 99
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 58 27 0 0 0 0 85
Institute of Human Genetics, University of Leipzig Medical Center 49 19 10 0 0 0 78
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 59 16 1 0 0 0 76
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 33 15 18 0 0 0 66
KCCC/NGS Laboratory, Kuwait Cancer Control Center 8 3 0 0 52 0 63
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 50 0 6 1 0 0 57
MGZ Medical Genetics Center 29 10 18 0 0 0 57
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 16 3 37 0 1 0 57
Department of Pathology and Laboratory Medicine, Sinai Health System 1 40 1 11 3 0 56
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 26 18 6 0 0 0 50
Department of Genetics, Sultan Qaboos University Hospital 43 5 1 0 0 0 49
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 39 3 4 0 0 0 46
Molecular Pathology, Peter Maccallum Cancer Centre 31 4 9 1 0 0 45
Centre for Mendelian Genomics, University Medical Centre Ljubljana 20 4 10 0 2 0 36
OMIM 34 0 0 0 0 0 34
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 19 11 0 0 0 0 30
Neuberg Centre For Genomic Medicine, NCGM 18 12 0 0 0 0 30
Baylor Genetics 12 3 12 0 0 0 27
Medical and Scientific Branch, Hong Kong Genome Institute 16 8 0 0 0 0 24
Variantyx, Inc. 15 8 0 0 0 0 23
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 16 5 0 0 0 0 21
Clinical Genomics Laboratory, Washington University in St. Louis 7 0 9 0 0 0 16
Institute of Medical Genetics, University of Zurich 12 2 1 1 0 0 16
Myriad Genetics, Inc. 13 3 0 0 0 0 16
Department of Human Genetics, Hannover Medical School 10 4 1 0 0 0 15
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 8 6 1 0 0 0 15
Genetics and Molecular Pathology, SA Pathology 10 2 2 0 0 0 14
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 9 5 0 0 0 0 14
Johns Hopkins Genomics, Johns Hopkins University 2 2 6 2 1 0 13
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 1 4 3 3 0 12
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 11 1 0 0 0 0 12
Institute of Human Genetics, Medical University Innsbruck 12 0 0 0 0 0 12
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 8 0 0 0 0 11
Clinical Genetics Laboratory, Skane University Hospital Lund 9 2 0 0 0 0 11
Center of Genomic medicine, Geneva, University Hospital of Geneva 8 1 1 0 0 0 10
Medical Molecular Genetics Department, National Research Center 6 4 0 0 0 0 10
Suma Genomics 10 0 0 0 0 0 10
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 6 3 0 0 0 0 9
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 5 4 0 0 0 0 9
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 9 0 0 0 0 0 9
Dasa 8 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 8
GenomeConnect, ClinGen 0 0 0 0 0 8 8
Institute of Human Genetics Munich, TUM University Hospital 5 3 0 0 0 0 8
MVZ Medizinische Genetik Mainz 6 0 2 0 0 0 8
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 7 0 0 0 0 0 7
Human Genetics Bochum, Ruhr University Bochum 3 4 0 0 0 0 7
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 5 1 0 0 0 0 6
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 5 1 0 0 0 0 6
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 2 3 0 1 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 1 1 0 0 0 6
GeneReviews 0 0 0 0 0 6 6
Institute of Human Genetics, Cologne University 1 3 2 0 0 0 6
OLLIN Analises Genomicas, OLLIN 4 2 0 0 0 0 6
Centre of Medical Genetics, University Hospital Muenster 4 1 0 0 0 0 5
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 1 4 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 1 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 1 0 0 0 4
Clinical Genetics and Genomics, Karolinska University Hospital 3 1 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 4
Genesis Genomics 1 3 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 1 0 0 0 4
Institute of Human Genetics, University of Goettingen 2 0 2 0 0 0 4
MVZ Dr. Eberhard & Partner Dortmund 2 2 0 0 0 0 4
Pars Genome Lab 4 0 0 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 2 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 3 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 1 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 1 1 0 0 0 3
Department Of Biochemistry, Hamamatsu University School Of Medicine 1 2 0 0 0 0 3
Department of Research and Development, Institute Hermes Pardini 3 0 0 0 0 0 3
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 3 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 3
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 3 0 0 0 0 0 3
Genetics Department, Catlab 1 1 1 0 0 0 3
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 2 1 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 1 1 0 0 0 3
New York Genome Center 2 0 1 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 0 0 0 3
Swedish Neurofibromatosis Center, Swedish Medical Center 2 1 0 0 0 0 3
CGC Genetics, Unilabs 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 2
Center of Human Genetics, Hôpital Erasme 1 1 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Department of Medical Genetics, College of Basic Medicine, Army Medical University 2 0 0 0 0 0 2
Department of Molecular Genetics, Istishari Arab Hospital 2 0 0 0 0 0 2
Department of Neurology, Zibo Changguo Hospital 2 0 0 0 0 0 2
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 1 0 0 0 2
Dr.Nikuei Genetic Center 2 0 0 0 0 0 2
Eurofins-Biomnis 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 0 2
Laboratori Clínic ICS Lleida, Hospital Universitari Arnau de Vilanova 2 0 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 1 1 0 0 0 2
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 2
Sun Health (Beijing), Ltd. 2 0 0 0 0 0 2
Carson lab, Ohio State University Comprehensive Cancer Center 1 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Clinical Genomics, G42 Labs 1 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 1
Department of Dermatology, Xinhua Hospital, Shanghai Jiao Tong University of Medicine 1 0 0 0 0 0 1
Department of Genomics, ADN Uruguay 1 0 0 0 0 0 1
Department of Medical Genetics, Gazi University 0 1 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 0 0 0 0 0 1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 0 0 0 0 0 1 1
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
EVOGEN 0 1 0 0 0 0 1
Epigenetics and Oncology Laboratory, Southwest Medical University 1 0 0 0 0 0 1
Fan Lab, Zhengzhou University 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Hereditary Cancer Clinic, Medical College of Georgia 0 1 0 0 0 0 1
Hongqi Zhang Laboratory, Xiangya Hospital, Central South University 0 1 0 0 0 0 1
Human Genetics Research Lab, Central University of Jammu 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Neuropathology, University Medical Center Hamburg-Eppendorf 1 0 0 0 0 0 1
KK Women’s and Children’s Hospital 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 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 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 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 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 1 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 0 1
Otolaryngology - Head and Neck Surgery, The General Hospital of the PLA Rocket Force 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 0 0 1 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 0 1 0 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 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 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 1
The Endocrine Laboratory, Qilu Hospital, Shandong University 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Unidad Asesoramiento Genetico Oncologico Falp, Instituto Oncologico Fundacion Arturo Lopez Perez 1 0 0 0 0 0 1

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