ClinVar Miner

Variants in gene BRCA1

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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 risk factor other not provided total
3380 427 3860 2038 843 2 1 4189 11806

Condition and significance breakdown #

Total conditions: 45
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Breast-ovarian cancer, familial 1 2697 117 1178 686 733 0 0 3920 8131
Hereditary breast and ovarian cancer syndrome 1487 211 2047 902 187 0 0 0 4712
Hereditary cancer-predisposing syndrome 902 139 1828 1316 173 0 0 0 4123
not provided 601 91 877 445 81 0 0 6 1962
not specified 40 0 453 591 189 0 0 47 1121
Familial cancer of breast 73 1 8 2 44 0 0 272 396
Malignant tumor of breast 95 7 105 75 37 0 0 0 319
Breast and/or ovarian cancer 111 10 49 27 16 0 0 0 210
Breast neoplasm 55 2 36 9 0 0 0 0 102
none provided 11 0 19 21 47 0 0 0 98
Neoplasm of ovary 65 4 0 0 0 0 0 0 69
Familial cancer of breast; Breast-ovarian cancer, familial 1; Pancreatic cancer 4; Fanconi anemia, complementation group S 21 0 20 0 2 0 0 0 43
Ovarian cancer 13 0 2 1 0 0 0 0 16
Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome 12 0 0 0 0 0 0 0 12
Fanconi anemia, complementation group S 8 1 0 0 0 0 0 0 9
Breast carcinoma 1 0 2 0 4 0 0 0 7
Breast cancer, susceptibility to 0 1 4 0 0 0 0 0 5
Cancer of the pancreas 0 0 4 1 0 0 0 0 5
Breast-ovarian cancer, familial 2 1 0 3 0 0 0 0 0 4
Carcinoma of colon 1 0 1 1 0 0 0 0 3
Carcinoma of pancreas 3 0 0 0 0 0 0 0 3
Endometrial carcinoma 1 0 0 1 0 0 0 0 2
Familial cancer of breast; Breast-ovarian cancer, familial 1; Pancreatic cancer 4 1 0 1 0 0 0 0 0 2
Fanconi anemia, complementation group A 2 0 0 0 0 0 0 0 2
Infiltrating duct carcinoma of breast 2 0 0 0 0 0 0 0 2
Malignant tumor of prostate 0 0 1 1 0 0 0 0 2
Rhabdomyosarcoma (disease) 2 0 0 0 0 0 0 0 2
B lymphoblastic leukemia lymphoma with hyperdiploidy 0 0 1 0 0 0 0 0 1
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 0 0 1 0 0 0 0 0 1
Breast and colorectal cancer 1 0 0 0 0 0 0 0 1
Carcinoma of head of pancreas 0 0 1 0 0 0 0 0 1
Craniopharyngioma 0 0 1 0 0 0 0 0 1
Cystinuria 1 0 0 0 0 0 0 0 1
Deafness, autosomal dominant 13 0 0 1 0 0 0 0 0 1
Ductal breast carcinoma 0 0 1 0 0 0 0 0 1
Dysgerminoma 0 0 0 0 0 0 1 0 1
Familial breast and ovarian cancer 1 0 0 0 0 0 0 0 1
Ganglioneuroblastoma 0 0 1 0 0 0 0 0 1
Neoplasm of ovary; Breast carcinoma 1 0 0 0 0 0 0 0 1
Neuroblastoma 0 0 1 0 0 0 0 0 1
Ovarian Serous Surface Papillary Adenocarcinoma 1 0 0 0 0 0 0 0 1
Pancreatic cancer 4 0 0 0 0 0 1 0 0 1
Pancreatic cancer, susceptibility to 0 0 0 0 0 1 0 0 1
Punctate palmoplantar keratoderma type 2 1 0 0 0 0 0 0 0 1
bilateral breast cancer 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 122
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 1212 112 1982 971 183 0 0 0 4460
Brotman Baty Institute,University of Washington 0 0 0 0 0 0 0 3893 3893
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 2229 0 4 441 642 0 0 1 3317
Ambry Genetics 750 85 1348 693 116 0 0 0 2992
Color Health, Inc 423 75 909 899 110 0 0 0 2416
Breast Cancer Information Core (BIC) (BRCA1) 846 0 828 0 35 0 0 34 1739
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 1601 0 0 0 0 0 0 0 1601
GeneDx 431 41 421 431 103 0 0 0 1427
Integrated Genetics/Laboratory Corporation of America 305 70 454 233 93 0 0 0 1155
Quest Diagnostics Nichols Institute San Juan Capistrano 340 50 403 151 44 0 0 0 982
Sharing Clinical Reports Project (SCRP) 443 25 229 78 120 0 0 1 896
Department of Pathology and Laboratory Medicine,Sinai Health System 192 15 240 122 73 0 0 0 642
Counsyl 118 53 211 139 53 0 0 0 574
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 462 7 41 0 14 0 0 2 526
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 264 264
Mendelics 61 12 72 67 36 0 0 0 248
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 46 1 34 63 65 0 0 0 209
GeneKor MSA 97 5 15 0 25 0 0 0 142
Illumina Clinical Services Laboratory,Illumina 3 0 78 35 22 0 0 0 137
Michigan Medical Genetics Laboratories,University of Michigan 42 0 12 11 49 0 0 0 114
Department of Medical Genetics, Oslo University Hospital 98 12 1 0 0 0 0 0 111
PreventionGenetics, PreventionGenetics 12 0 14 39 37 0 0 0 102
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 65 0 1 9 27 0 0 0 102
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 16 1 36 14 30 0 0 0 97
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 52 5 18 9 12 0 0 0 96
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 53 5 19 9 8 0 0 0 94
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 45 0 3 9 35 0 0 0 92
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 24 5 29 23 13 0 0 0 91
CeGaT Praxis fuer Humangenetik Tuebingen 29 1 29 24 0 0 0 0 83
Baylor Genetics 25 1 6 0 38 0 0 0 70
Fulgent Genetics,Fulgent Genetics 27 0 25 13 3 0 0 0 68
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 64 4 0 0 0 0 0 0 68
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 55 5 0 0 0 0 0 0 60
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 7 0 9 15 23 0 0 0 54
CZECANCA consortium 53 1 0 0 0 0 0 0 54
Genome Diagnostics Laboratory,University Medical Center Utrecht 17 0 1 10 25 0 0 0 53
Mayo Clinic Laboratories, Mayo Clinic 12 0 3 20 18 0 0 0 53
University of Washington Department of Laboratory Medicine, University of Washington 12 1 3 36 1 0 0 0 53
ITMI 0 0 0 0 0 0 0 46 46
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 39 6 0 0 0 0 0 0 45
Department of Pathology and Molecular Medicine,Queen's University 26 1 9 3 5 0 0 0 44
OMIM 41 0 2 0 0 2 0 0 43
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University 20 1 22 0 0 0 0 0 43
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 38 4 0 0 0 0 0 0 42
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 36 4 0 0 0 0 0 0 40
Pathway Genomics 14 2 7 13 4 0 0 0 40
CSER _CC_NCGL, University of Washington 4 2 18 15 0 0 0 0 39
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 2 0 20 3 13 0 0 0 38
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 8 0 3 26 0 0 0 0 37
True Health Diagnostics 3 0 1 27 6 0 0 0 37
Genetic Services Laboratory, University of Chicago 10 0 9 12 4 0 0 0 35
Institute of Human Genetics, University of Leipzig Medical Center 20 1 9 2 3 0 0 0 35
Breast Center,Key Laboratory of Carcinogenesis and Translational Research 5 7 20 0 1 0 0 0 33
3DMed Clinical Laboratory Inc 22 1 8 1 0 0 0 0 32
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 23 0 7 0 0 0 0 0 30
Genomic Research Center, Shahid Beheshti University of Medical Sciences 12 0 0 3 8 0 0 8 29
Genologica Medica 27 1 0 0 0 0 0 0 28
King Laboratory,University of Washington 12 0 0 0 11 0 0 0 23
Division of Human Genetics,Medical University Innsbruck 20 1 0 0 0 0 0 0 21
Department of Medical Genetics, University Hospital of North Norway 0 4 7 5 1 0 0 0 17
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology 2 5 3 0 7 0 0 0 17
Center of Medical Genetics and Primary Health Care 9 1 2 0 4 0 0 0 16
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 7 2 3 0 0 0 12
Vantari Genetics 1 0 1 4 6 0 0 0 12
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 6 4 1 1 0 0 0 0 12
Bioinformatics dept.,Datar Cancer Genetics Limited, India 11 0 0 0 0 0 0 0 11
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 10 0 0 0 0 0 0 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 0 2 2 2 0 0 0 10
Institute of Genomics,University of Tartu 9 1 0 0 0 0 0 0 10
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 8 1 0 0 0 0 0 0 9
Laboratory of Biomedical Genomics and Oncogenetics,Institut Pasteur de Tunis 9 0 0 0 0 0 0 0 9
Division of Medical Genetics, University of Washington 5 0 3 0 0 0 0 0 8
MVZ Praenatalmedizin und Genetik Nuernberg 2 0 2 1 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 0 5 5
Cancer Molecular Diagnostics Core,Tianjin Medical University Cancer Institute and Hospital 0 1 4 0 0 0 0 0 5
Liquid Biopsy and Precision Medicine Group,Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 1 0 4 0 0 0 0 0 5
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 3 1 0 0 0 0 0 0 4
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University,Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 0 0 0 4 0 0 0 4
Yang An-Suei Laboratory,Academia Sinica 4 0 0 0 0 0 0 0 4
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 4 0 0 0 0 0 4
Lab of Molecular Oncology,Sapienza University of Rome 4 0 0 0 0 0 0 0 4
GeneReviews 3 0 0 0 0 0 0 0 3
Donald Williams Parsons Laboratory,Baylor College of Medicine 2 0 0 0 0 0 1 0 3
Academic Center for Education, Culture and Research, Motamed Cancer Institute 3 0 0 0 0 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 0 3 0 0 0 0 0 3
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 2 0 0 0 0 0 0 2
Curoverse 2 0 0 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 2 0 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 0 0 2
Veritas Genetics,Veritas Genetics 1 1 0 0 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 0 0 2
Centre for Molecular Diagnostics & Cell Biology,Rajiv Gandhi Cancer Institute & Research Center 2 0 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 0 2
Eone-Diagnomics Genome Center 0 0 2 0 0 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 2 0 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 0 2 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 0 0 2
ACT Genomics, 0 0 2 0 0 0 0 0 2
Genomic Center,National Cancer Institute 2 0 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 1 0 0 0 0 0 0 1
Faculty of Pharmacy, Ain Shams University 1 0 0 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 1 0 0 0 0 0 1
Faculty of Pharmacy,Medical University of Gdansk 0 0 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 0 0 1
Center for Breast Cancer,National Cancer Center 1 0 0 0 0 0 0 0 1
Clinical Molecular and Personalized Diagnostics,Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital Agostino Gemelli Foundation 1 0 0 0 0 0 0 0 1
Cancer Prevention Center, Yonsei Cancer Center,Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 0 0 0 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 1 0 0 0 0 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 1 0 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 0 0 1
International Hereditary Cancer Center PUM,Pomeranian Medical University 0 0 0 1 0 0 0 0 1
Human Cancer Genomic Research,King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 0 0 1
Centro de Estudios en Salud,Universidad de Narino 0 1 0 0 0 0 0 0 1
Department of Medical Laboratory Science, Faculty of Allied Health Sciences,University of Peradeniya 1 0 0 0 0 0 0 0 1

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