ClinVar Miner

Variants studied for Breast-ovarian cancer, familial, susceptibility to, 1

Coded as:
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 not provided total
2969 272 1599 928 794 2 3920 8956

Gene and significance breakdown #

Total genes and gene combinations: 28
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
BRCA1 2412 247 1378 795 724 0 3918 8040
BRCA1, LOC126862571 435 19 197 122 43 0 2 729
BRCA2 83 4 1 1 0 0 0 88
BRCA1, LOC111589215 1 0 12 9 9 0 0 28
BRCA1, LOC111589215, NBR2 1 0 0 0 12 0 0 13
BRCA1, LOC110485084, LOC111589215, LOC111589216, LOC126862571 12 0 0 0 0 0 0 12
PALB2 6 0 2 0 0 0 0 8
BRCA1, NBR2 2 0 0 0 4 0 0 6
BRCA1, LOC110485084, LOC111589215, LOC111589216 4 0 0 0 0 0 0 4
ATM 2 0 1 0 0 0 0 3
BRCA1, LOC110485084, LOC111589216 2 0 0 0 1 0 0 3
NBN 1 2 0 0 0 1 0 3
​intergenic 0 0 2 0 0 0 0 2
BRCA1, LOC110485084, LOC111589215, LOC111589216, LOC125177482, LOC126862571, LOC130060934, RND2 2 0 0 0 0 0 0 2
BRCA1, LOC110485084, LOC111589216, LOC126862571 2 0 0 0 0 0 0 2
BRCA1, NBR1, NBR2, TMEM106A 2 0 0 0 0 0 0 2
BRIP1 2 0 0 0 0 0 0 2
RAD51C 1 0 0 0 0 1 0 2
ATM, C11orf65 0 0 1 0 0 0 0 1
BRCA1, LOC110485084 0 0 0 0 1 0 0 1
BRCA1, LOC110485084, LOC111589215, LOC111589216, LOC126862571, NBR2 1 0 0 0 0 0 0 1
BRCA1, LOC110485084, LOC111589215, LOC111589216, NBR2 0 0 1 0 0 0 0 1
BRCA1, RND2 1 0 0 0 0 0 0 1
MLH1 0 0 1 0 0 0 0 1
MSH2 0 0 1 0 0 0 0 1
MSH6 0 0 1 0 0 0 0 1
RET 0 0 0 1 0 0 0 1
TP53 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 116
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Brotman Baty Institute, University of Washington 0 1 0 0 0 0 3892 3893
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 2223 0 3 441 661 0 1 3329
Breast Cancer Information Core (BIC) (BRCA1) 846 0 831 0 35 0 34 1742
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 1621 0 0 0 0 0 0 1621
Sharing Clinical Reports Project (SCRP) 443 25 229 78 120 0 1 896
All of Us Research Program, National Institutes of Health 106 8 432 313 37 0 0 896
Counsyl 118 53 216 142 54 0 0 583
Baylor Genetics 344 77 95 0 1 0 0 517
BRCAlab, Lund University 230 22 59 35 41 0 0 387
Mendelics 28 12 40 73 43 0 0 196
Myriad Genetics, Inc. 73 20 1 41 8 0 0 143
Illumina Laboratory Services, Illumina 3 0 75 34 22 0 0 134
KCCC/NGS Laboratory, Kuwait Cancer Control Center 45 6 24 16 43 0 0 134
Michigan Medical Genetics Laboratories, University of Michigan 42 0 12 11 49 0 0 114
Department of Medical Genetics, Oslo University Hospital 101 12 1 0 0 0 0 114
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 101 8 0 0 0 0 0 109
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 63 0 0 9 27 0 0 99
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 45 0 1 9 34 0 0 89
Institute of Human Genetics, University of Leipzig Medical Center 55 10 10 3 3 0 0 81
Quest Diagnostics Nichols Institute San Juan Capistrano 50 4 22 0 0 0 0 76
Department of Pathology and Laboratory Medicine, Sinai Health System 29 2 19 7 3 0 0 60
Department of Medical and Surgical Sciences, University of Bologna 2 2 8 29 14 0 0 55
Genome Diagnostics Laboratory, University Medical Center Utrecht 17 0 0 10 25 0 0 52
Molecular Endocrinology Laboratory, Christian Medical College 21 6 18 0 0 0 0 45
OMIM 38 0 2 0 0 1 0 41
Pathway Genomics 14 2 7 13 4 0 0 40
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 35 4 0 0 0 0 0 39
University of Washington Department of Laboratory Medicine, University of Washington 27 0 4 1 0 0 0 32
MGZ Medical Genetics Center 25 6 0 0 0 0 0 31
Genetics and Molecular Pathology, SA Pathology 19 2 2 1 5 0 0 29
Neuberg Centre For Genomic Medicine, NCGM 15 5 9 0 0 0 0 29
Genologica Medica 27 1 0 0 0 0 0 28
Institute of Human Genetics, Medical University Innsbruck 20 1 0 0 0 0 0 21
ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen 10 1 1 0 8 0 0 20
Fulgent Genetics, Fulgent Genetics 6 0 3 10 0 0 0 19
Department of Medical Genetics, University Hospital of North Norway 0 4 7 6 1 0 0 18
Genomic Research Center, Shahid Beheshti University of Medical Sciences 11 0 0 3 3 0 0 17
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 9 0 5 0 2 0 0 16
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 14 1 1 0 0 0 0 16
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 12 0 0 0 0 14
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited 1 0 0 0 12 0 0 13
DASA 12 0 0 0 0 0 0 12
Genetic Services Laboratory, University of Chicago 10 0 0 0 0 0 0 10
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 10 0 0 0 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 10 0 0 0 0 0 0 10
Institute of Genomics, University of Tartu 9 1 0 0 0 0 0 10
Bioinformatics dept., Datar Cancer Genetics Limited, India 9 0 0 0 0 0 0 9
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 9 0 0 0 0 0 0 9
Human Genetics Bochum, Ruhr University Bochum 7 1 1 0 0 0 0 9
Division of Medical Genetics, University of Washington 5 0 3 0 0 0 0 8
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 1 3 0 0 0 0 7
Clinical Cancer Genomics Laboratory, City of Hope Comprehensive Cancer Center 0 7 0 0 0 0 0 7
Unidad Asesoramiento Genetico Oncologico Falp, Instituto Oncologico Fundacion Arturo Lopez Perez 7 0 0 0 0 0 0 7
MVZ Praenatalmedizin und Genetik Nuernberg 2 1 2 1 0 0 0 6
deCODE genetics, Amgen 6 0 0 0 0 0 0 6
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 2 0 3 0 0 1 0 6
GeneKor MSA 5 0 0 0 0 0 0 5
Medical Genetics, Medical University Pleven 5 0 0 0 0 0 0 5
New York Genome Center 4 1 0 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 0 0 0 0 0 0 4
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 3 1 0 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 3 0 1 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 2 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 0 0 0 0 0 3
UOSD Diagnostica Molecolare E Genomica, Irccs Policlinico Agostino Gemelli 3 0 0 0 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 2 0 0 0 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 2 0 0 0 2
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 0 0 2 0 0 0 2
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 0 2
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 1 0 0 1 0 0 0 2
Donald Williams Parsons Laboratory, Baylor College of Medicine 2 0 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 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 2
Eone-Diagnomics Genome Center 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Academic Center for Education, Culture and Research, Motamed Cancer Institute 2 0 0 0 0 0 0 2
Genome-Nilou Lab 2 0 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 0 0 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 1 0 0 0 0 2
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 0 0 0 0 0 0 1
emedgene Technologies 0 0 0 0 1 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 1 0 0 0 0 0 0 1
Molecular Diagnostics, Rajiv Gandhi Cancer Institute & Research Center 1 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 1
Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
International Hereditary Cancer Center PUM, Pomeranian Medical University 0 0 0 1 0 0 0 1
Laboratorio de Genetica Molecular e Citogenetica, Universidade Federal de Goias 0 1 0 0 0 0 0 1
3billion 0 1 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 0 1
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 1 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 0 1
Center for Translational Medicine, First Affiliated Hospital of Xi'an Jiaotong University 1 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 0 1
Arcensus 1 0 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 0 0 1
Kong lab, Department of Laboratory Medicine, National Cancer Center 0 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.