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
887 292 1561 180 13 1 2 2863

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
NF1 841 288 1533 175 13 1 2 2780
LOC111811965, NF1 5 3 25 3 0 0 0 36
LOC108281182, NF1 8 1 0 0 0 0 0 9
EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965, NF1, OMG 3 0 2 0 0 0 0 5
LOC108281181, NF1 5 0 0 0 0 0 0 5
LOC108281180, NF1 4 0 0 0 0 0 0 4
EVI2A, EVI2B, NF1, OMG 3 0 0 0 0 0 0 3
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

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 588 132 1407 130 5 0 0 2262
Center for Human Genetics, Inc 104 111 40 8 0 0 0 263
Medical Genetics, University of Parma 81 31 41 0 0 0 0 153
Medical Genomics Laboratory,Department of Genetics UAB 114 0 0 0 0 0 0 114
Mendelics 31 8 46 17 6 0 0 108
Illumina Clinical Services Laboratory,Illumina 1 0 57 27 2 0 0 87
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 45 0 6 1 0 0 0 52
OMIM 34 0 0 0 0 0 0 34
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
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 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
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 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
Integrated Genetics/Laboratory Corporation of America 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,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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 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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