ClinVar Miner

Variants in gene NF2

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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 other not provided total
116 29 511 208 61 1 8 890

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Neurofibromatosis, type 2 100 25 460 164 48 0 0 778
Hereditary cancer-predisposing syndrome 0 0 101 69 2 0 0 172
not provided 17 2 20 41 16 0 1 97
not specified 0 0 6 15 4 0 7 31
Meningioma, familial 1 0 4 0 0 0 0 5
Meningioma, familial; Neurofibromatosis, type 2; Schwannomatosis 1 0 0 4 0 0 0 0 4
Schwannomatosis 1 3 0 1 0 0 0 0 4
Meningioma 2 0 0 0 0 0 0 2
See cases 1 0 1 0 0 0 0 2
Choroid plexus carcinoma 0 0 0 0 0 1 0 1
Ependymoma 0 1 0 0 0 0 0 1
Inborn genetic diseases 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: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 73 14 320 159 15 0 0 581
Illumina Clinical Services Laboratory,Illumina 0 0 129 19 32 0 0 180
Ambry Genetics 0 1 101 69 2 0 0 173
GeneDx 11 2 5 20 13 0 0 51
Mendelics 10 1 19 4 2 0 0 36
OMIM 19 0 0 0 0 0 0 19
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 10 3 0 0 0 14
Center for Human Genetics, Inc,Center for Human Genetics, Inc 6 6 0 0 0 0 0 12
Athena Diagnostics Inc 6 0 1 0 3 0 0 10
Integrated Genetics/Laboratory Corporation of America 2 1 0 0 5 0 0 8
Baylor Genetics 2 1 4 0 0 0 0 7
ITMI 0 0 0 0 0 0 7 7
PreventionGenetics, PreventionGenetics 0 0 0 5 1 0 0 6
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 3 0 0 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 1 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 2 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 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
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
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 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
Lineagen, Inc 0 0 1 0 0 0 0 1
ISCA site 1 1 0 0 0 0 0 0 1
ISCA site 4 0 0 1 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
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
Broad Institute Rare Disease Group, Broad Institute 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
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 1 1

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