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
1437 327 2259 663 86 1 4 4630

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 1381 321 2219 656 86 1 4 4521
LOC111811965, NF1 6 4 36 5 0 0 0 51
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: 43
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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 1 0 108 25 29 0 0 163
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
OMIM 34 0 0 0 0 0 0 34
Division of Human Genetics,Medical University Innsbruck 12 0 0 0 0 0 0 12
Integrated Genetics/Laboratory Corporation of America 6 4 0 0 0 0 0 10
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
Department of Research and Development,Institute Hermes Pardini 3 0 0 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 0 0 0 0 0 3
Baylor Genetics 0 1 1 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
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 1 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
Institute of Human Genetics,Klinikum rechts der Isar 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 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: University of Minnesota 0 1 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
Swedish Neurofibromatosis Center,Swedish Medical Center 0 1 0 0 0 0 0 1

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