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
74 20 293 174 45 1 8 583

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Neurofibromatosis, type 2 59 17 231 52 17 0 0 375
Hereditary cancer-predisposing syndrome 0 0 104 66 2 0 0 172
not provided 16 2 17 93 28 0 1 153
not specified 0 0 5 15 4 0 7 30
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
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 0 1
Meningioma, familial 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: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 34 8 141 102 14 0 0 299
Ambry Genetics 0 0 104 66 2 0 0 172
Illumina Clinical Services Laboratory,Illumina 0 0 76 34 15 0 0 125
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
Center for Human Genetics, Inc 6 6 0 0 0 0 0 12
Athena Diagnostics Inc 5 0 1 0 3 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 1 0 0 0 8
ITMI 0 0 0 0 0 0 7 7
PreventionGenetics,PreventionGenetics 0 0 0 5 1 0 0 6
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 5 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
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
Baylor Genetics 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
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
Division of Genomic Diagnostics,The 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
McDonnell Genome Institute,Washington University in St. Louis 0 1 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
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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