ClinVar Miner

Variants in gene BAP1

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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
353 159 1751 1569 507 51 3579

Condition and significance breakdown #

Total conditions: 41
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BAP1-related tumor predisposition syndrome 251 73 1185 1059 382 4 2583
Hereditary cancer-predisposing syndrome 163 73 1073 1022 153 0 2298
not provided 33 24 306 115 17 3 471
not specified 0 0 48 133 22 7 196
BAP1-related disorder 1 0 27 31 4 0 63
Melanoma, uveal, susceptibility to, 2; BAP1-related tumor predisposition syndrome; Kury-Isidor syndrome 4 1 19 6 5 0 35
Melanoma, uveal, susceptibility to, 2 2 0 0 12 12 0 26
Neoplasm 0 14 4 0 0 0 18
BAP1-related tumor predisposition syndrome; Kury-Isidor syndrome 0 0 7 3 0 0 10
Kury-Isidor syndrome 4 3 3 0 0 0 10
Neurodevelopmental disorder 10 0 0 0 0 0 10
Uveal melanoma 2 0 0 0 0 6 8
Clear cell carcinoma of kidney 0 1 0 0 0 6 7
Hereditary cancer 0 0 2 5 0 0 7
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Acute myeloid leukemia 0 0 0 0 0 4 4
Hepatocellular carcinoma 0 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 0 4 4
Melanoma 0 0 0 0 0 4 4
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 4 4
Lung cancer 0 0 0 0 0 3 3
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Mesothelioma 0 0 0 0 0 3 3
Thymoma 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Adenoid cystic carcinoma 0 0 2 0 0 0 2
Cervical cancer 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 2 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
See cases 1 0 1 0 0 0 2
Astrocytoma 0 1 0 0 0 0 1
BAP1 Cancer Syndrome 1 0 0 0 0 0 1
BAP1-associated neurodevelopmental disorder 0 0 1 0 0 0 1
Ewing sarcoma 0 1 0 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Ganglioglioma 0 0 1 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Medulloblastoma 0 0 1 0 0 0 1
Multiple myeloma 0 1 0 0 0 0 1
Paediatric disorders 1 0 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 75
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 215 45 1119 977 38 0 2394
Ambry Genetics 152 63 778 801 130 0 1924
Color Diagnostics, LLC DBA Color Health 25 10 481 462 20 0 998
Myriad Genetics, Inc. 59 15 0 181 348 0 603
GeneDx 13 9 242 87 8 0 359
Baylor Genetics 11 16 183 0 0 0 210
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 6 18 41 117 9 0 191
Quest Diagnostics Nichols Institute San Juan Capistrano 6 3 77 33 18 0 137
PreventionGenetics, part of Exact Sciences 1 0 27 32 11 0 71
CeGaT Center for Human Genetics Tuebingen 8 2 12 40 2 0 64
Illumina Laboratory Services, Illumina 0 0 30 7 24 0 61
Sema4, Sema4 0 0 20 19 19 0 58
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 41 41
Fulgent Genetics, Fulgent Genetics 4 0 29 3 0 0 36
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 1 12 27 0 34
Genetic Services Laboratory, University of Chicago 6 5 7 6 9 0 33
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 7 13 8 0 30
Mendelics 1 0 12 7 2 0 22
Breakthrough Genomics, Breakthrough Genomics 0 0 1 13 5 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 4 7 6 0 18
OMIM 15 0 0 0 0 0 15
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 14 0 0 0 15
Molecular Pathology, Peter Maccallum Cancer Centre 4 4 5 1 0 0 14
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 13 0 0 0 13
Mayo Clinic Laboratories, Mayo Clinic 0 1 3 8 1 0 13
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 10 0 0 11
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 10 0 0 0 0 0 10
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 4 3 0 7
ITMI 0 0 0 0 0 7 7
Institute of Human Genetics, University of Leipzig Medical Center 1 2 4 0 0 0 7
Clinical Genetics Laboratory, Skane University Hospital Lund 2 1 2 1 0 0 6
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 1 1 1 0 0 6
Eurofins Ntd Llc (ga) 0 0 5 1 0 0 6
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 5 0 1 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 3 2 0 5
Revvity Omics, Revvity 0 0 5 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 1 0 4
Genetics and Molecular Pathology, SA Pathology 3 1 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 1 0 0 4
Dasa 0 0 0 1 2 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
MGZ Medical Genetics Center 0 1 2 0 0 0 3
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 3 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 0 3
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2 0 0 0 0 0 2
Genome Sciences Centre, British Columbia Cancer Agency 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 0 0 2
True Health Diagnostics 1 0 0 1 0 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Department of Genetics and Molecular Medicine, Landspitali - University Hospital 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Harbour Laboratory, University of Miami Miller School of Medicine 1 0 0 0 0 0 1
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 0 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 0 0 1 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Michigan Center for Translational Pathology, University of Michigan 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Thoracic Oncology, University of Hawaii Cancer Center 1 0 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1

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