ClinVar Miner

Variants in gene NF2

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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 other not provided total
216 46 993 688 111 1 10 1944

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Neurofibromatosis, type 2 187 28 783 561 57 0 1 1584
Hereditary cancer-predisposing syndrome 24 10 396 285 35 0 0 737
not provided 23 6 65 49 36 0 2 175
Familial meningioma 1 1 42 0 0 0 0 44
not specified 0 0 9 20 6 0 7 39
NF2-related condition 2 0 6 22 1 0 0 31
Familial meningioma; Neurofibromatosis, type 2; Schwannomatosis 1 0 0 8 2 0 0 0 10
Schwannomatosis 1 5 2 2 0 0 0 0 9
Inborn genetic diseases 0 1 3 0 0 0 0 4
Meningioma 2 0 1 0 0 0 0 3
Autosomal dominant polycystic liver disease 0 0 0 1 0 0 0 1
Choroid plexus carcinoma 0 0 0 0 0 1 0 1
Ependymoma 0 1 0 0 0 0 0 1
Malignant tumor of breast 0 0 1 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 0 1
Neurofibromatosis, type 1 0 0 1 0 0 0 0 1
Spindle cell sarcoma 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 152 16 648 533 26 0 0 1375
Ambry Genetics 24 10 391 282 27 0 0 734
Illumina Laboratory Services, Illumina 0 0 123 19 28 0 0 170
GeneDx 15 5 41 39 31 0 0 131
Genome-Nilou Lab 9 1 79 19 14 0 0 122
Baylor Genetics 2 2 43 0 0 0 0 47
Sema4, Sema4 0 1 14 17 9 0 0 41
CeGaT Center for Human Genetics Tuebingen 1 0 12 24 2 0 0 39
Mendelics 12 1 16 4 5 0 0 38
PreventionGenetics, part of Exact Sciences 2 0 6 27 2 0 0 37
OMIM 19 0 0 0 0 0 0 19
Genetics and Molecular Pathology, SA Pathology 11 0 4 0 0 0 0 15
Color Diagnostics, LLC DBA Color Health 0 0 2 7 4 0 0 13
Athena Diagnostics Inc 7 0 1 1 3 0 0 12
Center for Human Genetics, Inc, Center for Human Genetics, Inc 6 6 0 0 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 2 6 0 0 11
Fulgent Genetics, Fulgent Genetics 0 0 8 2 0 0 0 10
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 5 0 0 8
Revvity Omics, Revvity 1 0 6 0 0 0 0 7
ITMI 0 0 0 0 0 0 7 7
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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 1 0 1 1 0 0 6
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 0 0 3 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 1 0 0 3
MGZ Medical Genetics Center 1 0 2 0 0 0 0 3
Eurofins Ntd Llc (ga) 0 0 2 1 0 0 0 3
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 2 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 2 0 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 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
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 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
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 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
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Medical Genomics Laboratory, Department of Genetics UAB 1 0 0 0 0 0 0 1
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
McDonnell Genome Institute, Washington University in St. Louis 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 1 0 1
Center of Medical Genetics and Primary Health Care 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 0 1
Papaemmanuil Lab, Memorial Sloan Kettering Cancer Research Center 1 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 0 1
3billion 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 0 1

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