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
52 16 209 108 28 1 8 397

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Neurofibromatosis, type 2 39 13 192 92 26 0 0 353
Hereditary cancer-predisposing syndrome 0 0 18 19 2 0 0 39
not specified 0 0 4 15 4 0 7 29
not provided 12 2 9 0 2 0 1 26
Meningioma, familial; Neurofibromatosis, type 2; Schwannomatosis 1 0 0 4 0 0 0 0 4
Schwannomatosis 1 3 0 0 0 0 0 0 3
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
Spindle cell sarcoma 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 20 7 103 58 11 0 0 199
Illumina Clinical Services Laboratory,Illumina 0 0 76 34 15 0 0 125
Ambry Genetics 0 0 18 19 2 0 0 39
GeneDx 9 2 5 14 0 0 0 30
Mendelics 0 0 19 1 0 0 0 20
OMIM 19 0 0 0 0 0 0 19
Center for Human Genetics, Inc 6 6 0 0 0 0 0 12
ITMI 0 0 0 0 0 0 7 7
PreventionGenetics 0 0 0 5 1 0 0 6
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 5 0 0 6
Athena Diagnostics Inc 3 0 0 0 2 0 0 5
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
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 0 1
Biesecker Lab/Human Development 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
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
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
CeGaT Praxis fuer Humangenetik Tuebingen 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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