Variants studied for BAP1-related tumor predisposition syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
230	65	1097	990	380	3	2407

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	227	65	1095	990	380	3	2402
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.	48	13	0	182	347	0	590
Baylor Genetics	11	16	183	0	0	0	210
Illumina Laboratory Services, Illumina	0	0	32	13	26	0	71
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
Mendelics	1	0	8	2	1	0	12
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
Fulgent Genetics, Fulgent Genetics	1	0	6	0	0	0	7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	3	1	1	0	0	0	5
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
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
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	0	1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	1	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
Clinical Genetics Laboratory, Skane University Hospital Lund	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
MVZ Medizinische Genetik Mainz	0	1	0	0	0	0	1

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