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
82 31 459 411 27 7 943

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 36 7 315 328 19 0 683
Tumor susceptibility linked to germline BAP1 mutations 55 20 245 54 5 0 375
not provided 5 5 15 156 20 0 191
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
Ewing's 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
Uveal melanoma 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Color 10 3 227 270 17 0 527
Invitae 44 20 223 171 20 0 478
Ambry Genetics 26 5 155 125 9 0 320
GeneDx 5 4 5 54 3 0 71
Illumina Clinical Services Laboratory,Illumina 0 0 18 24 3 0 45
Mendelics 1 0 13 2 1 0 17
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 6 2 0 0 9
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 3 0 5
Genetic Services Laboratory, University of Chicago 1 0 1 0 1 0 3
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
True Health Diagnostics 1 0 0 1 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
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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