ClinVar Miner

Variants studied for Neurofibromatosis, type 2

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
244 44 933 751 72 1 1923

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NF2 237 44 924 751 68 1 1903
LOC130067184, NF2 0 0 9 0 4 0 13
LOC130067183, LOC130067184, NF2 4 0 0 0 0 0 4
AP1B1, ASCC2, C22orf31, CABP7, CCDC117, CHEK2, EMID1, EWSR1, GAS2L1, HSCB, KREMEN1, MTMR3, NEFH, NF2, NIPSNAP1, RASL10A, RFPL1, RFPL1S, RHBDD3, THOC5, UQCR10, XBP1, ZMAT5, ZNRF3 1 0 0 0 0 0 1
AP1B1, C22orf31, CCDC117, CHEK2, EMID1, EWSR1, GAS2L1, HSCB, KREMEN1, NEFH, NF2, NIPSNAP1, RASL10A, RFPL1, RFPL1S, RHBDD3, THOC5, XBP1, ZNRF3 1 0 0 0 0 0 1
AP1B1, EMID1, EWSR1, GAS2L1, NEFH, NF2, NIPSNAP1, RASL10A, RFPL1, RFPL1S, RHBDD3, THOC5 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 193 21 731 708 27 0 1680
All of Us Research Program, National Institutes of Health 0 3 175 80 5 0 263
Color Diagnostics, LLC DBA Color Health 0 0 83 97 19 0 199
Illumina Laboratory Services, Illumina 0 0 84 9 31 0 124
Genome-Nilou Lab 9 1 79 19 14 0 122
Mendelics 12 1 15 4 5 0 37
OMIM 14 0 0 0 0 0 14
Center for Human Genetics, Inc, Center for Human Genetics, Inc 6 6 0 0 0 0 12
Genetics and Molecular Pathology, SA Pathology 9 0 3 0 0 0 12
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 3 0 9 0 0 0 12
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 8 0 11
Revvity Omics, Revvity 2 0 8 0 0 0 10
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 5 3 1 0 0 0 9
Baylor Genetics 2 1 4 0 0 0 7
ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Iran University of Medical Sciences 7 0 0 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 1 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 2 1 0 5
3billion 1 3 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 2 0 0 0 3
MGZ Medical Genetics Center 1 0 2 0 0 0 3
Molecular Pathology, Peter Maccallum Cancer Centre 0 1 1 1 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 0 0 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 0 0 0 0 2
Swedish Neurofibromatosis Center, Swedish Medical Center 0 2 0 0 0 0 2
Variantyx, Inc. 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Hereditary Cancer Clinic, Medical College of Georgia 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Medical Genetics Clinic, University of Catania 0 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
UAB Medical Genomics Laboratory, UAB Medicine 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 1

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