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 not provided total
691 243 1220 536 60 1 2670

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NF1 650 240 1195 531 60 1 2596
LOC111811965, NF1 5 2 22 5 0 0 34
LOC108281182, NF1 7 1 0 0 0 0 8
EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965, NF1, OMG 3 0 2 0 0 0 5
LOC108281181, NF1 5 0 0 0 0 0 5
LOC108281180, NF1 4 0 0 0 0 0 4
EVI2A, EVI2B, NF1, OMG 3 0 0 0 0 0 3
LOC108281169, LOC108281170, NF1 3 0 0 0 0 0 3
LOC108281169, LOC108281170, LOC108281180, LOC111811965, NF1 1 0 1 0 0 0 2
LOC108281170, LOC108281180, NF1 2 0 0 0 0 0 2
EVI2A, EVI2B, LOC108281170, LOC108281180, LOC108281181, LOC108281182, NF1, OMG 1 0 0 0 0 0 1
EVI2A, EVI2B, LOC108281181, LOC108281182, NF1, OMG 1 0 0 0 0 0 1
EVI2A, EVI2B, LOC108281181, NF1, OMG 1 0 0 0 0 0 1
EVI2A, EVI2B, NF1 1 0 0 0 0 0 1
EVI2B, NF1, OMG 1 0 0 0 0 0 1
LOC108281169, LOC108281170, LOC108281180, NF1 1 0 0 0 0 0 1
LOC108281169, LOC111811965, NF1 1 0 0 0 0 0 1
LOC108281180, LOC108281181, NF1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 417 99 1072 502 58 0 2148
Center for Human Genetics, Inc 104 111 40 8 0 0 263
Medical Genetics,University of Parma 81 31 41 0 0 0 153
Medical Genomics Laboratory,Department of Genetics UAB 89 0 0 0 0 0 89
Illumina Clinical Services Laboratory,Illumina 1 0 57 27 2 0 87
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 41 0 6 1 0 0 48
Mendelics 2 1 31 2 0 0 36
OMIM 33 0 0 0 0 0 33
Center of Genomic medicine, Geneva,University Hospital of Geneva 8 1 1 0 0 0 10
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 8 1 0 0 0 0 9
Department of Research and Development,Institute Hermes Pardini 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 1 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 0 0 0 0 3
Baylor Miraca Genetics Laboratories, 0 1 1 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 2
Department of Molecular Diagnostics,Institute of Oncology 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Carson lab,Ohio State University Comprehensive Cancer Center 1 0 0 0 0 0 1
Fan Lab,Zhengzhou University 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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