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
62 23 372 344 25 7 774

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 18 5 256 299 18 0 582
Tumor susceptibility linked to germline BAP1 mutations 46 13 185 124 21 0 369
not specified 0 0 2 35 8 7 45
not provided 5 5 11 0 1 0 22
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
Uveal melanoma 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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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 35 13 163 102 20 0 333
Ambry Genetics 8 2 55 63 6 0 134
GeneDx 5 4 5 35 3 0 52
Illumina Clinical Services Laboratory,Illumina 0 0 18 24 3 0 45
Mendelics 1 0 12 1 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
PreventionGenetics 0 0 0 1 7 0 8
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
Genetic Services Laboratory, University of Chicago 1 0 1 0 1 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 2 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 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

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