ClinVar Miner

Variants studied for Neurofibromatosis, type 1

Coded as:
Minimum submission review status: Collection method:
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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
1450 335 2264 663 88 1 4 4652

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
NF1 1394 329 2223 656 88 1 4 4542
LOC111811965, NF1 6 4 37 5 0 0 0 52
EVI2A, EVI2B, NF1, OMG 9 2 1 0 0 0 0 12
LOC108281182, NF1 9 0 0 0 0 0 0 9
EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965, NF1, OMG 4 0 2 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
LOC108281169, LOC108281170, NF1 3 0 0 0 0 0 0 3
EVI2A, EVI2B, LOC108281170, LOC108281180, LOC108281181, LOC108281182, NF1, OMG 2 0 0 0 0 0 0 2
EVI2A, EVI2B, LOC108281181, LOC108281182, NF1, OMG 2 0 0 0 0 0 0 2
EVI2A, EVI2B, LOC108281182, NF1, OMG 2 0 0 0 0 0 0 2
LOC108281169, LOC108281170, LOC108281180, LOC111811965, NF1 1 0 1 0 0 0 0 2
LOC108281170, LOC108281180, NF1 2 0 0 0 0 0 0 2
EVI2A, EVI2B, LOC108281181, NF1, OMG 1 0 0 0 0 0 0 1
EVI2A, EVI2B, NF1 1 0 0 0 0 0 0 1
EVI2A, NF1 0 0 0 1 0 0 0 1
EVI2B, NF1 0 0 0 1 0 0 0 1
EVI2B, NF1, OMG 1 0 0 0 0 0 0 1
LOC108281169, LOC108281170, LOC108281180, NF1 1 0 0 0 0 0 0 1
LOC108281169, LOC111811965, NF1 1 0 0 0 0 0 0 1
LOC108281180, LOC108281181, NF1 1 0 0 0 0 0 0 1
NF1, OMG 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1080 163 2071 622 67 0 0 4003
Center for Human Genetics, Inc,Center for Human Genetics, Inc 104 111 40 8 0 0 0 263
Medical Genomics Laboratory,Department of Genetics UAB 187 0 0 0 0 0 0 187
Medical Genetics, University of Parma 108 28 40 0 0 0 0 176
Illumina Clinical Services Laboratory,Illumina 2 0 108 25 29 0 0 164
Mendelics 31 8 46 17 6 0 0 108
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 50 0 6 1 0 0 0 57
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
Institute of Human Genetics, University of Leipzig Medical Center 10 4 2 0 0 0 0 16
Integrated Genetics/Laboratory Corporation of America 9 5 0 0 0 0 0 14
Division of Human Genetics,Medical University Innsbruck 12 0 0 0 0 0 0 12
Center of Genomic medicine, Geneva,University Hospital of Geneva 8 1 1 0 0 0 0 10
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 8 0 0 0 0 0 10
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 1 0 0 0 0 0 8
Medical Molecular Genetics Department, National Research Center 6 2 0 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 1 1 0 0 0 0 4
Johns Hopkins Genomics,Johns Hopkins University 1 0 2 1 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 3 0 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 1 0 0 0 0 3
Department of Research and Development,Institute Hermes Pardini 3 0 0 0 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 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 Molecular Diagnostics, Institute of Oncology Ljubljana 0 2 0 0 0 0 0 2
Swedish Neurofibromatosis Center,Swedish Medical Center 1 1 0 0 0 0 0 2
Genetic Services Laboratory,University of Chicago 1 0 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 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
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 0 1
Carson lab,Ohio State University Comprehensive Cancer Center 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
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

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