ClinVar Miner

Variants studied for nerve sheath neoplasm

Included ClinVar conditions (23):
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 not provided total
79 122 292 6 15 3 495

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LZTR1 42 107 247 1 0 2 378
SMARCB1 14 2 19 3 15 1 53
NF2 5 3 10 2 0 0 20
LOC130067016, LZTR1 3 3 13 0 0 0 19
NF1 13 6 0 0 0 0 19
DERL3, SMARCB1 0 0 2 0 0 0 2
BCR, C22orf15, CHCHD10, DERL3, DRICH1, GGTLC2, GNAZ, IGLC1, IGLL1, IGLL5, MMP11, PRAME, RAB36, RGL4, RSPH14, SMARCB1, VPREB3, ZNF70 1 0 0 0 0 0 1
BRD7, LOC126862343 0 1 0 0 0 0 1
MXI1 1 0 0 0 0 0 1
PTPN11 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 19 77 242 0 0 0 337
Illumina Laboratory Services, Illumina 1 2 18 3 15 0 39
Fulgent Genetics, Fulgent Genetics 3 4 11 3 0 0 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 7 0 0 0 0 20
OMIM 16 0 0 0 0 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 6 2 0 0 0 14
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 3 6 0 0 0 13
Genetics and Molecular Pathology, SA Pathology 5 4 4 0 0 0 13
MGZ Medical Genetics Center 3 8 1 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 1 5 0 0 0 0 6
Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University 6 0 0 0 0 0 6
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 0 3 0 0 0 5
Clinical Genomics Laboratory, Stanford Medicine 1 0 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 1 2 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 1 0 0 0 3
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 2 0 0 0 0 3
UAB Medical Genomics Laboratory, UAB Medicine 2 0 0 0 0 0 2
Labcorp Genetics (formerly Invitae), Labcorp 0 0 2 0 0 0 2
Mendelics 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center for Personalized Medicine, Roswell Park Cancer Institute 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Laboratory of Reproductive Genetics, Women’s Hospital, School of Medicine, Zhejiang University 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Fernandez-Valle lab, University of Central Florida 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1

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