ClinVar Miner

Variants studied for BAP1-related tumor predisposition syndrome

Included ClinVar conditions (3):
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 not provided total
199 53 985 795 52 3 2049

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BAP1 193 53 982 795 51 3 2039
BAP1, DNAH1 2 0 2 0 0 0 4
BRCA2 1 0 0 0 1 0 2
PALB2 2 0 0 0 0 0 2
NBN 1 0 0 0 0 0 1
PMS2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 172 37 927 780 36 0 1952
Baylor Genetics 7 14 122 0 0 0 143
Illumina Laboratory Services, Illumina 0 0 34 13 26 0 73
Myriad Genetics, Inc. 32 6 0 3 1 0 42
Fulgent Genetics, Fulgent Genetics 1 0 13 3 0 0 17
Mendelics 1 0 10 2 1 0 14
OMIM 10 0 0 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 1 1 4 0 0 0 6
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 6 0 0 0 6
Ambry Genetics 3 0 1 0 1 0 5
MGZ Medical Genetics Center 0 1 2 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 1 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.