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
228 63 1101 989 376 3 2406

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BAP1 225 63 1099 989 376 3 2401
BAP1, DNAH1 2 0 2 0 0 0 4
BRCA2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 200 40 1032 899 36 0 2207
Myriad Genetics, Inc. 44 12 0 181 347 0 584
Baylor Genetics 11 16 183 0 0 0 210
Illumina Laboratory Services, Illumina 1 0 33 13 26 0 73
Fulgent Genetics, Fulgent Genetics 4 0 29 3 0 0 36
Mendelics 1 0 9 2 1 0 13
OMIM 10 0 0 0 0 0 10
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 8 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 0 1 4 0 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 1 0 0 0 0 4
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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 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
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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