ClinVar Miner

Variants in gene BRIP1

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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
760 412 3359 1918 822 39 6047

Condition and significance breakdown #

Total conditions: 36
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial cancer of breast; Fanconi anemia complementation group J 450 168 2316 1235 44 1 4186
Hereditary cancer-predisposing syndrome 290 145 2033 1166 32 0 3484
Familial cancer of breast 423 173 457 265 722 0 1949
not provided 81 63 681 153 76 5 995
not specified 0 1 273 259 74 26 555
Fanconi anemia complementation group J 38 22 172 42 31 1 290
BRIP1-related disorder 5 8 63 59 2 6 140
Fanconi anemia complementation group J; Ovarian neoplasm 7 26 68 4 0 0 105
Hereditary breast ovarian cancer syndrome 15 23 28 19 21 0 105
Ovarian neoplasm 5 10 35 30 11 0 91
Breast and/or ovarian cancer 9 5 37 30 6 0 87
Malignant tumor of breast 8 6 31 14 5 1 62
Gastric cancer 26 0 0 0 0 0 26
Fanconi anemia 1 2 16 3 0 0 22
Breast neoplasm 1 0 17 2 0 0 20
Ovarian cancer 11 7 1 0 0 0 19
Familial ovarian cancer 3 0 3 2 0 1 9
Hereditary cancer 0 0 3 6 0 0 9
Breast carcinoma 3 3 2 0 0 0 8
Breast cancer, early-onset 4 1 2 0 0 0 6
Breast-ovarian cancer, familial, susceptibility to, 1 4 0 2 0 0 0 6
BRIP1-associated familial cancer predisposition 3 1 0 0 0 0 4
Inherited ovarian cancer (without breast cancer) 0 1 2 1 0 0 4
Carcinoma of colon 0 1 0 0 1 0 2
Carcinoma of pancreas 2 0 0 0 0 0 2
Cervical cancer 0 0 0 1 0 0 1
Colorectal cancer 1 0 0 0 0 0 1
Diffuse intrinsic pontine glioma 0 1 0 0 0 0 1
Familial cancer of breast; Fanconi anemia complementation group J; Tracheoesophageal fistula 1 0 0 0 0 0 1
Fanconi anemia complementation group D2 1 0 0 0 0 0 1
Fanconi anemia complementation group J; BRIP1-related disorder 0 0 0 0 0 1 1
Fanconi anemia complementation group J; Familial ovarian cancer 0 0 0 0 0 1 1
Genetic non-acquired premature ovarian failure 1 0 0 0 0 0 1
Neurodevelopmental delay 0 1 0 0 0 0 1
Ovarian Cancers 1 0 0 0 0 0 1
Uterine corpus cancer 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 110
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 449 155 2303 1234 44 0 4185
Ambry Genetics 268 109 1709 926 12 0 3024
Myriad Genetics, Inc. 403 74 100 231 713 0 1521
Color Diagnostics, LLC DBA Color Health 85 50 794 432 18 0 1379
GeneDx 53 34 510 207 92 0 896
Baylor Genetics 50 92 341 1 0 0 484
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 20 32 176 73 21 0 322
Quest Diagnostics Nichols Institute San Juan Capistrano 26 10 194 47 25 0 302
Sema4, Sema4 11 11 115 53 13 0 203
Counsyl 8 33 103 34 11 0 189
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 8 7 88 75 8 0 186
PreventionGenetics, part of Exact Sciences 5 8 73 66 17 0 169
Illumina Laboratory Services, Illumina 1 1 117 17 24 0 160
Mendelics 5 8 67 37 2 0 119
Fulgent Genetics, Fulgent Genetics 15 14 75 4 2 0 110
Leiden Open Variation Database 19 2 66 1 21 0 109
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 1 5 37 30 6 0 79
Department of Pathology and Laboratory Medicine, Sinai Health System 6 1 48 19 5 0 79
Genetic Services Laboratory, University of Chicago 4 3 31 21 7 0 66
CeGaT Center for Human Genetics Tuebingen 8 5 13 33 1 0 60
KCCC/NGS Laboratory, Kuwait Cancer Control Center 5 1 27 6 19 0 58
University of Washington Department of Laboratory Medicine, University of Washington 3 2 2 50 0 0 57
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 0 16 13 13 0 45
Revvity Omics, Revvity 22 6 13 0 0 0 41
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 1 3 13 14 8 0 39
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 0 1 3 14 20 0 38
Breakthrough Genomics, Breakthrough Genomics 0 0 6 12 17 0 35
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 3 28 0 0 0 33
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 3 2 21 4 0 0 30
ITMI 0 0 0 0 0 26 26
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4 0 4 10 8 0 26
Laboratory for Genotyping Development, RIKEN 26 0 0 0 0 0 26
Institute of Human Genetics, University of Leipzig Medical Center 7 3 13 2 0 0 25
Cancer Genomics Group, Japanese Foundation For Cancer Research 1 2 18 0 0 0 21
GeneKor MSA 3 2 15 0 0 0 20
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 3 6 11 0 20
MGZ Medical Genetics Center 3 6 10 0 0 0 19
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 2 3 7 5 1 0 18
True Health Diagnostics 0 0 6 11 0 0 17
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 1 5 5 0 13
BRCAlab, Lund University 11 2 0 0 0 0 13
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 6 1 0 3 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 11 0 0 0 12
Genetics and Molecular Pathology, SA Pathology 2 2 5 3 0 0 12
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 12 12
Neuberg Centre For Genomic Medicine, NCGM 1 0 11 0 0 0 12
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 4 3 0 9
CZECANCA consortium 9 0 0 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 4 4 0 0 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 3 1 0 0 0 8
Clinical Genetics Laboratory, Skane University Hospital Lund 5 1 2 0 0 0 8
King Laboratory, University of Washington 3 0 0 0 4 0 7
Eurofins Ntd Llc (ga) 0 0 3 4 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 1 0 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 1 3 2 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 1 0 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 1 0 6
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 3 3 0 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 3 0 0 0 6
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 5 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 2 1 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 2 1 1 0 5
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 3 2 0 0 0 0 5
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 5 0 0 0 0 5
OMIM 4 0 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 2 1 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 3 0 0 0 3
Division of Medical Genetics, University of Washington 1 0 2 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Pathway Genomics 0 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 1 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
MVZ Praenatalmedizin und Genetik Nuernberg 2 0 0 0 0 0 2
Center of Medical Genetics and Primary Health Care 1 0 0 0 1 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 1 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 1 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 2
Bionano Laboratories 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genetic Predisposition to Colorectal Cancer Group, Institut d’Investigacions Biomediques August Pi i Sunyer 0 1 0 0 0 0 1
Vantari Genetics 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 1
Yang An-Suei Laboratory, Academia Sinica 1 0 0 0 0 0 1
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 0 1 0 0 0 1
3DMed Clinical Laboratory Inc 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 1 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 1
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Barretos Cancer Hospital 0 0 0 1 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Breast Care Center, Daerim St. Mary`s Hospital 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 0 0 0 0 0 1

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