ClinVar Miner

Variants in gene NF1

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Minimum submission review status: Collection method:
Minimum conflict level:
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
1088 396 2063 1220 171 1 93 4659

Condition and significance breakdown #

Total conditions: 51
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Neurofibromatosis, type 1 841 288 1533 175 13 1 2 2780
Hereditary cancer-predisposing syndrome 180 44 874 517 21 0 0 1635
not provided 178 68 231 829 140 0 76 1461
not specified 29 3 41 138 77 0 16 277
Neurofibromatosis, familial spinal 5 0 42 26 2 0 0 75
Neurofibromatosis-Noonan syndrome 5 0 42 26 2 0 0 75
Café-au-lait macules with pulmonary stenosis 3 0 42 26 2 0 0 73
Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 16 1 22 0 0 0 0 39
Inborn genetic diseases 7 0 5 0 0 0 0 12
Neurofibroma 6 0 0 0 0 0 0 6
Midaortic syndrome 0 5 0 0 0 0 0 5
Multiple cafe-au-lait spots 1 2 2 0 0 0 0 5
Juvenile myelomonocytic leukemia 3 0 0 0 0 0 0 3
Acute monocytic leukemia; Acute monoblastic leukemia 0 0 2 0 0 0 0 2
Cafe-au-lait spot 2 0 0 0 0 0 0 2
Ewing's sarcoma; Neurofibromatosis, type 1 2 0 0 0 0 0 0 2
Neurofibromas 2 0 0 0 0 0 0 2
Optic nerve glioma 2 0 0 0 0 0 0 2
See cases 2 0 0 0 0 0 0 2
Autism spectrum disorder 0 1 0 0 0 0 0 1
Cafe-au-lait spot; Axillary freckling; Optic nerve glioma 1 0 0 0 0 0 0 1
Cafe-au-lait spot; Axillary freckling; Plexiform neurofibroma 0 1 0 0 0 0 0 1
Cafe-au-lait spot; Macrocephalus; Tibial pseudoarthrosis 0 1 0 0 0 0 0 1
Craniopharyngioma 0 0 1 0 0 0 0 1
Diffuse intrinsic pontine glioma 0 0 1 0 0 0 0 1
Ganglioglioma 0 1 0 0 0 0 0 1
Hyperactivity; Febrile seizures; Visual loss; Cafe-au-lait spot; Strabismus; Abnormality of vision; Abnormal electroretinogram; Abnormal macular morphology; Abnormality of macular pigmentation; EEG with generalized slow activity 0 0 1 0 0 0 0 1
Inguinal hernia; Cafe-au-lait spot; Delayed speech and language development; Specific learning disability; Axillary freckling; Inguinal freckling; Familial predisposition 1 0 0 0 0 0 0 1
Keratoconus 0 0 1 0 0 0 0 1
Lisch nodules; Subcutaneous neurofibromas 1 0 0 0 0 0 0 1
Multiple cafe-au-lait spots; Abnormality of vision; Neurofibromas 0 1 0 0 0 0 0 1
Multiple cafe-au-lait spots; Axillary freckling; Focal T2 hyperintense basal ganglia lesion 1 0 0 0 0 0 0 1
Multiple cafe-au-lait spots; Axillary freckling; Large cafe-au-lait macules with irregular margins; Lisch nodules; Delayed fine motor development; Inguinal freckling 1 0 0 0 0 0 0 1
Multiple cafe-au-lait spots; Axillary freckling; Neurofibromas 1 0 0 0 0 0 0 1
Multiple cafe-au-lait spots; Axillary freckling; Neurofibromas; Inguinal freckling 1 0 0 0 0 0 0 1
Multiple cafe-au-lait spots; Axillary freckling; Neurofibromas; Optic nerve glioma 1 0 0 0 0 0 0 1
Multiple cafe-au-lait spots; Cafe-au-lait spot; Axillary freckling; Neurofibromas; Inguinal freckling 0 1 0 0 0 0 0 1
Multiple cafe-au-lait spots; Delayed speech and language development; Premature birth; Infantile muscular hypotonia 0 0 1 0 0 0 0 1
Multiple cafe-au-lait spots; Motor delay; Focal seizures 0 0 1 0 0 0 0 1
Multiple cafe-au-lait spots; Neurofibromas 1 0 0 0 0 0 0 1
Multiple cafe-au-lait spots; Optic nerve glioma 1 0 0 0 0 0 0 1
Multiple cafe-au-lait spots; Subcutaneous neurofibromas 1 0 0 0 0 0 0 1
Multiple cafe-au-lait spots; Thoracic scoliosis; Subcutaneous neurofibromas 0 1 0 0 0 0 0 1
Multiple myeloma 0 1 0 0 0 0 0 1
Neuroblastoma 0 0 1 0 0 0 0 1
Neurofibromatosis, type 1; Café-au-lait macules with pulmonary stenosis 1 0 0 0 0 0 0 1
Pilocytic astrocytoma 1 0 0 0 0 0 0 1
Pre-B-cell acute lymphoblastic leukemia 0 1 0 0 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 0 1
Spinal neurofibromas 1 0 0 0 0 0 0 1
Tumor susceptibility linked to germline BAP1 mutations 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 565 130 1392 863 66 0 0 3016
Ambry Genetics 186 41 873 517 21 0 0 1638
GeneDx 151 49 178 208 64 0 1 651
Center for Human Genetics, Inc 103 110 40 8 0 0 0 261
Medical Genetics, University of Parma 81 31 41 0 0 0 0 153
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 56 6 13 7 48 0 0 130
PreventionGenetics,PreventionGenetics 0 0 21 49 47 0 0 116
Mendelics 31 8 46 15 6 0 0 106
Medical Genomics Laboratory,Department of Genetics UAB 92 0 0 0 0 0 0 92
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 7 1 19 20 32 0 0 79
UniProtKB/Swiss-Prot 0 0 0 0 0 0 73 73
Illumina Clinical Services Laboratory,Illumina 1 0 44 26 2 0 0 73
Integrated Genetics/Laboratory Corporation of America 1 0 15 6 40 0 0 62
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 45 0 6 1 0 0 0 52
OMIM 45 0 0 0 0 0 0 45
Fulgent Genetics,Fulgent Genetics 16 1 22 0 0 0 0 39
Athena Diagnostics Inc 19 1 6 1 5 0 0 32
CeGaT Praxis fuer Humangenetik Tuebingen 0 10 13 3 0 0 0 26
Centre for Mendelian Genomics,University Medical Centre Ljubljana 14 8 3 0 0 0 0 25
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 25 0 0 25
ITMI 0 0 0 0 0 0 16 16
Genetic Services Laboratory, University of Chicago 1 0 2 8 3 0 0 14
GeneKor MSA 1 0 13 0 0 0 0 14
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 11 0 2 0 0 13
Center of Genomic medicine, Geneva,University Hospital of Geneva 9 1 1 0 0 0 0 11
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 4 2 3 0 0 11
Clinical Genomics Lab,St. Jude Children's Research Hospital 3 1 6 0 0 0 0 10
Gharavi Laboratory,Columbia University 1 1 8 0 0 0 0 10
Blueprint Genetics 3 4 2 0 0 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 7 0 0 0 0 0 9
Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University 6 0 0 0 0 0 0 6
Yale Center for Mendelian Genomics,Yale University 0 5 0 0 0 0 0 5
Academic Department of Medical Genetics, University of Cambridge 1 3 0 0 0 0 0 4
Institute of Human Genetics,University of Wuerzburg 2 0 2 0 0 0 0 4
Department of Research and Development,Institute Hermes Pardini 3 0 0 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 1 0 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 0 0 1 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
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 2 2
Molecular Oncology Initiative,University of California, San Francisco 2 0 0 0 0 0 0 2
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
Lineagen Inc. 0 0 1 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
ISCA site 1 1 0 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
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 1 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
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 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
Institute of Human Genetics,Polish Academy of Sciences 0 0 1 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
Liping Wei Laboratory,Peking University 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
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 0 1
Swedish Neurofibromatosis Center,Swedish Medical Center 0 1 0 0 0 0 0 1

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