ClinVar Miner

Variants in gene BAP1

Minimum submission review status: Collection method:
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Gene type:
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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
130 37 762 518 40 7 1402

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Tumor susceptibility linked to germline BAP1 mutations 105 25 527 232 36 0 903
Hereditary cancer-predisposing syndrome 40 9 429 406 20 0 878
not provided 8 5 17 64 0 0 92
not specified 0 0 2 35 8 7 45
Adenoid cystic carcinoma 0 0 2 0 0 0 2
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
Ganglioglioma 0 0 1 0 0 0 1
Medulloblastoma 0 0 1 0 0 0 1
Multiple myeloma 0 1 0 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1
Uveal melanoma 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 95 25 491 240 22 0 873
Color Health, Inc 18 5 356 360 17 0 756
Ambry Genetics 26 4 153 127 10 0 320
Illumina Clinical Services Laboratory,Illumina 0 0 34 13 26 0 73
GeneDx 5 4 5 54 3 0 71
Mendelics 1 0 13 2 1 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 7 4 0 0 14
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 10 0 0 11
OMIM 10 0 0 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 1 5 0 8
PreventionGenetics, PreventionGenetics 0 0 0 1 7 0 8
Fulgent Genetics,Fulgent Genetics 1 0 7 0 0 0 8
ITMI 0 0 0 0 0 7 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 5 1 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 0 4 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 1 0 1 0 3
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 1 2 0 0 0 3
Genome Sciences Centre,British Columbia Cancer Agency 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
True Health Diagnostics 1 0 0 1 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2 0 0 0 0 0 2
Thoracic Oncology,University of Hawaii Cancer Center 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Harbour Laboratory,University of Miami Miller School of Medicine 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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