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
3025 342 3153 1812 821 2 1 355 7974

Condition and significance breakdown #

Total conditions: 36
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Breast-ovarian cancer, familial 1 2677 112 1129 674 731 0 0 36 4761
Hereditary cancer-predisposing syndrome 827 120 1666 1173 172 0 0 0 3750
Hereditary breast and ovarian cancer syndrome 938 151 1191 158 40 0 0 0 2401
not provided 529 71 734 715 182 0 0 5 2034
not specified 44 0 353 585 168 0 0 47 1010
Familial cancer of breast 67 2 5 0 42 0 0 276 385
Breast and/or ovarian cancer 64 6 48 18 13 0 0 0 147
Neoplasm of the breast 55 2 35 9 0 0 0 0 101
Ovarian Neoplasms 64 4 0 0 0 0 0 0 68
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 1 1 0 0 0 0 15
Breast carcinoma 1 0 2 0 4 0 0 0 7
FANCONI ANEMIA, COMPLEMENTATION GROUP S 7 0 0 0 0 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 cancer 4 0 1 0 0 0 0 0 5
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
Neoplasm of ovary 2 0 0 0 0 0 0 0 2
B lymphoblastic leukemia lymphoma with hyperdiploidy 0 0 1 0 0 0 0 0 1
Breast and colorectal cancer 1 0 0 0 0 0 0 0 1
Breast-ovarian cancer, familial 2 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
Ductal breast carcinoma 0 0 1 0 0 0 0 0 1
Dysgerminoma 0 0 0 0 0 0 1 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
Porokeratosis punctata palmaris et plantaris 1 0 0 0 0 0 0 0 1
Rhabdomyosarcoma 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 104
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 2229 0 4 441 642 0 0 1 3317
Ambry Genetics 744 93 1374 665 115 0 0 0 2991
Invitae 517 73 1111 715 168 0 0 0 2584
Color 285 43 597 711 111 0 0 0 1747
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 1594 0 0 0 0 0 0 0 1594
GeneDx 431 42 420 431 103 0 0 0 1427
Sharing Clinical Reports Project (SCRP) 443 25 229 78 120 0 0 1 896
Quest Diagnostics Nichols Institute San Juan Capistrano 307 41 345 110 38 0 0 0 835
Integrated Genetics/Laboratory Corporation of America 190 48 323 175 64 0 0 0 799
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
Department of Pathology and Laboratory Medicine,Sinai Health System 130 14 87 82 68 0 0 0 381
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 264 264
Mendelics 61 12 77 67 36 0 0 0 248
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 39 1 15 48 55 0 0 0 158
GeneKor MSA 98 6 14 0 25 0 0 0 143
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 49 6 18 9 12 0 0 0 94
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 21 2 29 15 10 0 0 0 77
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
Baylor Genetics 24 0 0 0 38 0 0 0 62
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 7 0 9 15 23 0 0 0 54
Genome Diagnostics Laboratory,University Medical Center Utrecht 17 0 1 10 25 0 0 0 53
Mayo Clinic Genetic Testing 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
Illumina Clinical Services Laboratory,Illumina 3 0 20 25 0 0 0 0 47
ITMI 0 0 0 0 0 0 0 46 46
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
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 15 1 0 0 0 35
3DMed Clinical Laboratory Inc 22 1 8 1 0 0 0 0 32
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 19 11 0 0 0 0 30
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 23 0 7 0 0 0 0 0 30
Genologica Medica 27 1 0 0 0 0 0 0 28
Genomic Research Center, Shahid Beheshti University of Medical Sciences 7 0 4 0 1 0 0 12 22
Division Human Genetics,Medical University Innsbruck 20 1 0 0 0 0 0 0 21
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 16 2 0 0 0 0 0 0 18
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
Division of Genomic Diagnostics,The 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
Center of Medical Genetics and Primary Health Care 10 1 1 0 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 9 0 0 0 0 0 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 8 1 0 0 0 0 0 0 9
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 4 1 0 1 0 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 0 1 0 0 0 0 0 5
MVZ Praenatalmedizin und Genetik Nuernberg 2 0 2 1 0 0 0 0 5
Cancer Molecular Diagnostics Core,Tianjin Medical University Cancer Institute and Hospital 0 1 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
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
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
Academic Center for Education, Culture and Research, Motamed Cancer Institute 3 0 0 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
Department of Molecular Diagnostics,Institute of Oncology 0 2 0 0 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
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
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

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