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
347 181 2063 861 101 27 3264

Condition and significance breakdown #

Total conditions: 27
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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 231 76 1402 379 29 0 2112
Hereditary cancer-predisposing syndrome 164 72 1135 616 23 0 1936
not provided 60 36 367 145 28 1 610
not specified 0 0 91 209 64 26 345
Fanconi anemia, complementation group J 14 13 180 42 30 0 266
Familial cancer of breast 20 18 73 32 1 0 140
Fanconi anemia, complementation group J; Neoplasm of ovary 7 26 68 4 0 0 105
Neoplasm of ovary 5 10 35 30 11 0 91
Malignant tumor of breast 7 1 31 14 5 0 56
Hereditary breast and ovarian cancer syndrome 6 12 17 1 0 0 36
Breast neoplasm 1 0 18 2 0 0 21
Fanconi anemia 1 0 16 3 0 0 20
none provided 2 0 2 2 6 0 12
Breast and/or ovarian cancer 8 0 0 0 0 0 8
BRIP1-Related Disorders 1 0 5 0 0 0 6
Breast cancer, early-onset 4 1 2 0 0 0 6
Familial ovarian cancer 0 0 3 2 0 0 5
Breast carcinoma 0 0 2 0 0 0 2
Carcinoma of colon 0 1 0 0 1 0 2
Carcinoma of pancreas 2 0 0 0 0 0 2
Cancer of cervix 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
Hereditary cancer 0 0 1 0 0 0 1
Ovarian Cancers 1 0 0 0 0 0 1
Tumor susceptibility linked to germline BAP1 mutations 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 231 77 1398 419 29 0 2154
Ambry Genetics 133 47 813 351 10 0 1354
Color Health, Inc 69 31 656 372 18 0 1146
GeneDx 45 25 225 184 44 0 523
Counsyl 8 33 103 34 11 0 189
Integrated Genetics/Laboratory Corporation of America 9 18 98 43 15 0 183
Quest Diagnostics Nichols Institute San Juan Capistrano 13 4 98 32 18 0 162
Illumina Clinical Services Laboratory,Illumina 1 0 119 17 24 0 160
Mendelics 4 8 69 30 1 0 112
Leiden Open Variation Database 19 2 66 1 21 0 109
Department of Pathology and Laboratory Medicine,Sinai Health System 6 1 48 19 5 0 79
University of Washington Department of Laboratory Medicine, University of Washington 3 2 2 50 0 0 57
PreventionGenetics, PreventionGenetics 1 2 16 11 15 0 45
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 4 0 9 8 8 0 29
ITMI 0 0 0 0 0 26 26
Genetic Services Laboratory, University of Chicago 2 1 10 9 1 0 23
Fulgent Genetics,Fulgent Genetics 5 0 17 0 0 0 22
Cancer Genomics Group,Japanese Foundation For Cancer Research 1 2 17 1 0 0 21
GeneKor MSA 3 2 15 0 0 0 20
CeGaT Praxis fuer Humangenetik Tuebingen 4 1 9 4 0 0 18
True Health Diagnostics 0 0 6 11 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 1 2 11 1 0 0 15
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 9 0 0 0 9
CZECANCA consortium 9 0 0 0 0 0 9
King Laboratory,University of Washington 3 0 0 0 4 0 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 4 0 0 7
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 1 0 0 5 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 3 0 0 0 0 6
Baylor Genetics 1 0 4 0 0 0 5
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 3 2 0 0 0 0 5
OMIM 4 0 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 3 0 4
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 2 1 0 0 0 0 3
Division of Medical Genetics, University of Washington 1 0 2 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
Center of Medical Genetics and Primary Health Care 1 0 0 0 1 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Lineagen, Inc 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
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
IntelligeneCG 0 0 0 0 1 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 1 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 1 0 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1
Department of Medical Genetics,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

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