ClinVar Miner

Variants in gene BRIP1

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Minimum submission review status: Collection method:
Minimum conflict level:
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
802 403 3667 2081 825 67 6468

Condition and significance breakdown #

Total conditions: 54
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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 460 138 2494 1310 44 3 4415
Hereditary cancer-predisposing syndrome 332 162 2341 1319 37 0 3965
Familial cancer of breast 440 159 496 284 723 1 1996
not provided 84 70 737 174 77 5 1069
not specified 0 1 307 271 77 26 606
Fanconi anemia complementation group J 47 27 182 43 31 1 309
Familial ovarian cancer 18 14 96 23 0 1 150
BRIP1-related disorder 6 7 61 59 2 6 139
Hereditary breast ovarian cancer syndrome 19 27 49 22 21 0 131
Fanconi anemia complementation group J; Ovarian cancer 7 26 68 4 0 0 105
Ovarian cancer 12 15 36 30 11 0 101
Breast and/or ovarian cancer 9 5 37 30 6 0 87
Malignant tumor of breast 9 5 31 14 5 1 62
Gastric cancer 26 0 0 0 0 1 27
Inherited ovarian cancer (without breast cancer) 8 4 3 1 0 0 15
Breast-ovarian cancer, familial, susceptibility to, 1 4 0 7 0 0 0 11
Hereditary cancer 0 0 3 6 0 0 9
Breast carcinoma 3 3 2 0 0 0 8
Ovarian neoplasm 4 2 1 0 0 0 7
Breast cancer, early-onset 4 1 2 0 0 0 6
Malignant tumor of esophagus 0 0 0 0 0 5 5
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 5 5
BRIP1-associated familial cancer predisposition 3 1 0 0 0 0 4
Cervical cancer 0 0 0 1 0 3 4
Neoplasm 1 0 3 0 0 0 4
Ovarian serous cystadenocarcinoma 0 0 0 0 0 4 4
Uterine carcinosarcoma 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Fanconi anemia 1 2 0 0 0 0 3
Sarcoma 0 0 0 0 0 3 3
Breast neoplasm 1 0 1 0 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 2 0 1 0 0 1 0 2
Carcinoma of colon 0 1 0 0 1 0 2
Carcinoma of pancreas 2 0 0 0 0 0 2
Lung cancer 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
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; Esophageal atresia/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
Hepatocellular carcinoma 0 0 0 0 0 1 1
Hereditary skin disorder 0 0 1 0 0 0 1
Monogenic short stature 0 0 1 0 0 0 1
Neurodevelopmental delay 0 1 0 0 0 0 1
Ovarian Cancers 1 0 0 0 0 0 1
Ovarian cancer, susceptibility to, 1 1 0 0 0 0 0 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Uterine corpus cancer 1 0 0 0 0 0 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 132
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 459 121 2480 1308 44 0 4412
Ambry Genetics 308 105 1999 1072 12 0 3496
Myriad Genetics, Inc. 422 79 100 231 714 0 1546
Color Diagnostics, LLC DBA Color Health 96 56 849 481 16 0 1498
GeneDx 52 38 537 207 92 0 926
Baylor Genetics 48 64 341 1 0 0 454
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 29 32 204 78 21 0 363
Quest Diagnostics Nichols Institute San Juan Capistrano 24 12 237 61 25 0 359
Department of Pathology and Laboratory Medicine, Sinai Health System 22 6 146 69 6 0 249
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 8 8 107 87 10 0 220
Sema4, Sema4 11 11 115 53 13 0 203
Counsyl 8 33 103 34 11 0 189
PreventionGenetics, part of Exact Sciences 5 8 73 66 17 0 169
Illumina Laboratory Services, Illumina 1 0 98 14 24 0 137
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
CeGaT Center for Human Genetics Tuebingen 10 6 21 44 1 0 82
Molecular Pathology, Peter Maccallum Cancer Centre 5 10 62 4 0 0 81
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 1 5 37 30 6 0 79
KCCC/NGS Laboratory, Kuwait Cancer Control Center 5 1 39 6 19 0 70
Genetic Services Laboratory, University of Chicago 4 4 32 21 7 0 68
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 4 0 19 13 14 0 50
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 4 42 0 0 0 48
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 1 3 18 15 10 0 47
Revvity Omics, Revvity 22 8 15 1 0 0 46
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 2 5 23 8 0 0 38
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
Mayo Clinic Laboratories, Mayo Clinic 3 3 10 13 3 0 32
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 2 6 15 6 1 0 30
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 3 2 21 4 0 0 30
Institute of Human Genetics, University of Leipzig Medical Center 10 4 13 2 0 0 29
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 27 27
GeneKor MSA 3 2 15 0 7 0 27
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
Cancer Genomics Group, Japanese Foundation For Cancer Research 1 2 18 0 0 0 21
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
True Health Diagnostics 0 0 6 11 0 0 17
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 14 14
BRCAlab, Lund University 11 2 0 0 0 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 1 5 5 0 13
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 6 1 0 3 0 12
Neuberg Centre For Genomic Medicine, NCGM 1 0 11 0 0 0 12
Juno Genomics, Hangzhou Juno Genomics, Inc 4 7 0 0 0 0 11
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 7 1 0 0 0 10
Institute of Immunology and Genetics Kaiserslautern 3 0 7 0 0 0 10
CZECANCA consortium 9 0 0 0 0 0 9
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 4 3 0 9
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 2 2 3 1 1 0 9
Clinical Genetics Laboratory, Skane University Hospital Lund 5 1 2 0 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 2 2 0 0 0 8
Eurofins Ntd Llc (ga) 0 0 3 4 0 0 7
Genesis Genomics 2 5 0 0 0 0 7
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 5 2 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 6 1 0 0 0 0 7
King Laboratory, University of Washington 3 0 0 0 4 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 1 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 3 0 0 0 6
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 3 3 0 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 1 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 3 0 0 0 6
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 3 0 2 0 0 0 5
Dasa 3 0 1 1 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 5 0 0 0 0 5
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 3 2 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 2 1 0 0 5
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 3 1 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 2 1 1 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 2 0 0 2 1 0 5
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 5 0 0 0 0 5
Department of Human Genetics, Hannover Medical School 0 1 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 1 0 0 0 4
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 1 1 2 0 4
MVZ Praenatalmedizin und Genetik Nuernberg 3 0 1 0 0 0 4
OMIM 4 0 0 0 0 0 4
Division of Medical Genetics, University of Washington 1 0 2 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 1 0 0 0 0 3
NHS Central & South Genomic Laboratory Hub 2 1 0 0 0 0 3
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 0 1 1 1 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 3 0 0 0 3
3billion 0 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 1 0 0 0 2
Catlab - Consorci Sanitari de Terrassa 1 0 1 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 1 0 0 2
Center of Medical Genetics and Primary Health Care 1 0 0 0 1 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli 0 1 0 0 1 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Pathway Genomics 0 0 2 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 2
3DMed Clinical Laboratory Inc 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Breast Care Center, Daerim St. Mary`s Hospital 1 0 0 0 0 0 1
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 0 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 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
Genetics and Personalized Medicine Clinic, Tartu University Hospital 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 1 0 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Kong lab, Department of Laboratory Medicine, National Cancer Center 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 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
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 1 0 0 0 0 0 1
Vantari Genetics 0 0 1 0 0 0 1
Yang An-Suei Laboratory, Academia Sinica 1 0 0 0 0 0 1

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