ClinVar Miner

Variants studied for BAP1-related tumor predisposition syndrome

Coded as:
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Gene type:

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
255 73 1189 1059 382 4 2591

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BAP1 251 73 1185 1059 382 4 2583
BAP1, DNAH1 2 0 2 0 0 0 4
BAP1, PHF7 0 0 2 0 0 0 2
ATM 1 0 0 0 0 0 1
BRCA2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 217 45 1123 976 38 0 2399
Myriad Genetics, Inc. 60 15 0 181 348 0 604
Baylor Genetics 11 16 183 0 0 0 210
Illumina Laboratory Services, Illumina 0 0 30 7 24 0 61
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 1 0 26 0 27
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 4 7 3 0 16
Molecular Pathology, Peter Maccallum Cancer Centre 4 4 5 1 0 0 14
Mendelics 1 0 8 2 1 0 12
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 12 0 0 0 12
OMIM 10 0 0 0 0 0 10
Fulgent Genetics, Fulgent Genetics 1 0 6 0 0 0 7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 1 1 1 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 1 4 0 0 0 5
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Department of Genetics and Molecular Medicine, Landspitali - University Hospital 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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