ClinVar Miner

Variants in gene NF2

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 other not provided total
296 85 1336 921 122 1 41 2557

Condition and significance breakdown #

Total conditions: 41
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Neurofibromatosis, type 2 237 44 924 751 68 0 1 1903
Hereditary cancer-predisposing syndrome 44 20 770 431 38 0 0 1288
not provided 37 9 120 71 50 0 2 282
Familial meningioma 1 1 66 0 0 0 0 68
not specified 0 0 14 28 15 0 7 58
NF2-related disorder 2 0 8 22 1 0 0 33
Meningioma 21 2 3 0 0 0 0 26
Familial meningioma; Neurofibromatosis, type 2 2 0 17 2 0 0 0 21
Familial meningioma; Neurofibromatosis, type 2; SMARCB1-related schwannomatosis 0 0 8 2 0 0 0 10
SMARCB1-related schwannomatosis 5 2 2 0 0 0 0 9
Neoplasm 1 7 0 0 0 0 0 8
Mesothelioma 0 0 0 0 0 0 5 5
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 4 4
Acoustic neuroma 0 3 0 0 0 0 0 3
Cervical cancer 0 0 0 0 0 0 3 3
Clear cell carcinoma of kidney 0 0 0 0 0 0 3 3
Familial cancer of breast 0 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 2 2
Autosomal dominant polycystic liver disease 0 0 0 1 0 0 0 1
Bilateral vestibular schwannoma 0 0 1 0 0 0 0 1
Choroid plexus carcinoma 0 0 0 0 0 1 0 1
Ependymoma 0 1 0 0 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 0 1 1
Hereditary cancer 0 0 0 1 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 0 0 1
Malignant neoplasm of nervous system 0 0 1 0 0 0 0 1
Malignant tumor of breast 0 0 1 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 0 1 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 0 1
Melanoma 0 0 0 0 0 0 1 1
Neurofibromatosis, type 1 0 0 1 0 0 0 0 1
Neurofibromatosis, type 2; Meningioma 0 0 0 1 0 0 0 1
Sarcoma 0 0 0 0 0 0 1 1
See cases 0 1 0 0 0 0 0 1
Spinal cord ependymoma 1 0 0 0 0 0 0 1
Spindle cell sarcoma 1 0 0 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 93
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 189 21 727 708 27 0 0 1672
Ambry Genetics 44 20 761 428 30 0 0 1283
All of Us Research Program, National Institutes of Health 0 3 175 80 5 0 0 263
Color Diagnostics, LLC DBA Color Health 0 0 83 97 19 0 0 199
GeneDx 25 6 91 39 31 0 0 192
Genome-Nilou Lab 9 1 79 19 14 0 0 122
Illumina Laboratory Services, Illumina 0 1 80 9 27 0 0 117
Baylor Genetics 2 2 67 0 0 0 0 71
CeGaT Center for Human Genetics Tuebingen 5 0 18 41 2 0 0 66
Sema4, Sema4 0 1 14 17 9 0 0 41
PreventionGenetics, part of Exact Sciences 2 0 8 27 2 0 0 39
Mendelics 12 1 15 5 5 0 0 38
Breakthrough Genomics, Breakthrough Genomics 0 0 3 5 24 0 0 32
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 32 32
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 5 10 10 0 0 29
Fulgent Genetics, Fulgent Genetics 0 0 23 2 0 0 0 25
Dr. Guy Rouleau's laboratory, McGill University 17 1 2 0 0 0 0 20
OMIM 19 0 0 0 0 0 0 19
Genetics and Molecular Pathology, SA Pathology 11 0 4 0 0 0 0 15
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 9 4 1 0 0 0 0 14
Athena Diagnostics 7 0 1 2 3 0 0 13
Center for Human Genetics, Inc, Center for Human Genetics, Inc 6 6 0 0 0 0 0 12
Mayo Clinic Laboratories, Mayo Clinic 1 0 2 5 4 0 0 12
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 7 1 2 0 0 0 11
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 8 0 0 11
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 9 0 0 0 0 11
Revvity Omics, Revvity 2 0 8 0 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 4 1 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 5 2 1 0 0 0 0 8
ITMI 0 0 0 0 0 0 7 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 4 1 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 1 0 1 1 0 0 6
Genetic Services Laboratory, University of Chicago 0 0 1 5 0 0 0 6
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 6 0 0 0 0 6
3billion 1 3 0 1 0 0 0 5
ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Iran University of Medical Sciences 5 0 0 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 3 1 0 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 1 0 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 3 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 2 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 2 0 0 0 0 3
Dasa 2 0 1 0 0 0 0 3
Eurofins Ntd Llc (ga) 0 0 2 1 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 1 1 0 0 3
MGZ Medical Genetics Center 1 0 2 0 0 0 0 3
Molecular Pathology, Peter Maccallum Cancer Centre 0 1 1 1 0 0 0 3
New York Genome Center 0 0 3 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 0 0 0 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 2 2
Swedish Neurofibromatosis Center, Swedish Medical Center 0 2 0 0 0 0 0 2
Variantyx, Inc. 2 0 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 0 1
Hereditary Cancer Clinic, Medical College of Georgia 1 0 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 0 1
McDonnell Genome Institute, Washington University in St. Louis 0 1 0 0 0 0 0 1
Medical Genetics Clinic, University of Catania 0 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Papaemmanuil Lab, Memorial Sloan Kettering Cancer Research Center 1 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
UAB Medical Genomics Laboratory, UAB Medicine 1 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 0 1

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