ClinVar Miner

Variants studied for Neurofibromatosis, type 2

Coded as:
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
229 36 905 669 64 1 1823

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 222 36 894 669 60 1 1801
LOC130067184, NF2 0 0 11 0 4 0 15
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: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 182 20 691 630 27 0 1550
All of Us Research Program, National Institutes of Health 0 3 175 80 5 0 263
Illumina Laboratory Services, Illumina 0 0 129 19 32 0 180
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
Color Diagnostics, LLC DBA Color Health 0 0 2 7 4 0 13
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
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 8 0 11
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 7 0 0 0 9
Baylor Genetics 2 1 4 0 0 0 7
Revvity Omics, Revvity 1 0 6 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
MGZ Medical Genetics Center 1 0 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 2 0 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 2
Swedish Neurofibromatosis Center, Swedish Medical Center 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
UAB Medical Genomics Laboratory, UAB Medicine 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 0 1
Hereditary Cancer Clinic, Medical College of Georgia 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 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

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