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
190 28 791 561 61 1 1599

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NF2 187 28 783 561 57 1 1584
LOC130067184, NF2 0 0 8 0 4 0 12
LOC130067183, LOC130067184, NF2 2 0 0 0 0 0 2
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

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 154 16 649 533 26 0 1378
Illumina Laboratory Services, Illumina 0 0 129 19 32 0 180
Genome-Nilou Lab 9 1 79 19 14 0 122
Mendelics 12 1 16 4 5 0 38
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 5 0 8
Baylor Genetics 2 1 4 0 0 0 7
Revvity Omics, Revvity Omics 1 0 6 0 0 0 7
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 3 0 0 0 4
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
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
Swedish Neurofibromatosis Center, Swedish Medical Center 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Medical Genomics Laboratory, Department of Genetics UAB 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 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 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 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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