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 total
103 25 461 232 49 850

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NF2 102 25 461 232 49 849
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 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 74 14 320 210 16 634
Illumina Clinical Services Laboratory,Illumina 0 0 129 19 32 180
Mendelics 10 1 19 4 2 36
OMIM 14 0 0 0 0 14
Center for Human Genetics, Inc,Center for Human Genetics, Inc 6 6 0 0 0 12
Baylor Genetics 2 1 3 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 2 0 0 0 0 2
Department of Pediatrics,Memorial Sloan Kettering Cancer Center 2 0 0 0 0 2
Swedish Neurofibromatosis Center,Swedish Medical Center 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Medical Genomics Laboratory,Department of Genetics UAB 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 1 0 0 1

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