ClinVar Miner

Variants studied for Tumor susceptibility linked to germline BAP1 mutations

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
88 24 413 143 37 685

Gene and significance breakdown #

Total genes and gene combinations: 8
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BAP1 81 24 411 142 36 674
BRCA2 2 0 0 0 1 3
PALB2 2 0 0 0 0 2
PMS2 1 0 1 0 0 2
BAP1, DNAH1 1 0 0 0 0 1
BRIP1 0 0 1 0 0 1
MRE11 1 0 0 0 0 1
NF1 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 9
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 72 24 377 132 21 626
Illumina Clinical Services Laboratory,Illumina 0 0 34 13 26 73
Mendelics 1 0 13 2 1 17
OMIM 10 0 0 0 0 10
Ambry Genetics 6 0 2 1 1 10
Fulgent Genetics,Fulgent Genetics 1 0 7 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 2 3
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.