ClinVar Miner

Variants studied for BRCA2-related cancer predisposition

Included ClinVar conditions (18):
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
3447 331 2999 1734 975 35 8296

Gene and significance breakdown #

Total genes and gene combinations: 36
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRCA2 3430 322 2987 1723 931 35 8204
BRCA2, LOC106721785 0 1 5 6 4 0 15
BRCA1 1 1 3 0 4 0 9
CHEK2 0 1 0 0 8 0 9
ATM 0 0 0 4 4 0 8
TMEM132E 3 1 1 0 0 0 5
​intergenic 2 0 1 0 1 0 4
ATM, C11orf65 0 0 0 1 2 0 3
BARD1 0 0 0 0 3 0 3
BRCA2, LOC112163653 2 0 0 0 1 0 3
PTEN 0 0 0 0 3 0 3
BRCA2, LOC106721785, ZAR1L 0 0 0 0 2 0 2
BRCA2, LOC130009523 0 0 0 0 2 0 2
BRIP1 0 1 0 0 1 0 2
NALF1 2 0 0 0 0 0 2
PALB2 0 0 0 0 2 0 2
TP53 0 1 0 0 1 0 2
BRCA2, FRY, RXFP2, ZAR1L 1 0 0 0 0 0 1
BRCA2, LINC00423 0 0 1 0 0 0 1
BRCA2, LOC106721785, LOC112163653, LOC130009523, LOC130009524 1 0 0 0 0 0 1
BRCA2, LOC106721785, LOC130009523, ZAR1L 1 0 0 0 0 0 1
BRCA2, LOC112163653, LOC130009524 1 0 0 0 0 0 1
BRCA2, ZAR1L 1 0 0 0 0 0 1
CD68, TP53 0 0 0 0 1 0 1
CDH1 0 1 0 0 0 0 1
GPSM2 1 0 0 0 0 0 1
KLLN, PTEN 0 0 0 0 1 0 1
LINC00373 1 0 0 0 0 0 1
LOC129390903, RAD51C 0 0 0 0 1 0 1
LOC130061310, RAD51C 0 0 0 0 1 0 1
NBN 0 0 0 0 1 0 1
PMS2 1 0 0 0 0 0 1
RAD50 0 0 1 0 0 0 1
RAD51C 0 1 0 0 0 0 1
RNFT1-DT 0 0 0 0 1 0 1
STK11 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 149
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 2671 0 2 737 689 0 4099
All of Us Research Program, National Institutes of Health 246 17 1282 611 50 0 2206
Breast Cancer Information Core (BIC) (BRCA2) 795 0 1086 0 61 25 1966
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 1699 0 0 0 0 0 1699
Sharing Clinical Reports Project (SCRP) 520 21 584 145 192 0 1462
Counsyl 140 101 433 189 64 0 927
Department of Pathology and Laboratory Medicine, Sinai Health System 154 15 235 133 21 0 558
BRCAlab, Lund University 221 8 129 64 49 0 471
Myriad Genetics, Inc. 308 20 0 114 25 0 467
Mendelics 24 22 123 126 44 0 339
Fulgent Genetics, Fulgent Genetics 109 7 154 41 22 0 333
KCCC/NGS Laboratory, Kuwait Cancer Control Center 48 6 69 19 75 0 217
Illumina Laboratory Services, Illumina 9 0 97 79 28 0 213
Michigan Medical Genetics Laboratories, University of Michigan 48 2 34 32 91 0 207
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 64 0 8 49 74 0 195
Molecular Pathology, Peter Maccallum Cancer Centre 99 8 30 41 4 0 182
Genome Diagnostics Laboratory, University Medical Center Utrecht 24 2 1 55 59 0 141
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 75 1 4 11 45 0 136
Department of Medical and Surgical Sciences, University of Bologna 2 1 23 64 21 0 111
Department of Medical Genetics, Oslo University Hospital 81 7 0 0 0 0 88
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 70 2 2 6 2 0 82
Dasa 47 0 2 15 16 0 80
Institute of Human Genetics, University of Leipzig Medical Center 55 6 15 1 1 0 78
ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen 10 26 14 6 12 0 68
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 10 0 56 0 0 0 66
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli 1 6 4 5 43 0 59
Quest Diagnostics Nichols Institute San Juan Capistrano 37 3 16 0 0 0 56
Genesis Genomics 45 9 0 0 0 0 54
Genetics and Molecular Pathology, SA Pathology 19 5 15 7 6 0 52
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 46 3 1 0 0 0 50
Pathway Genomics 7 0 10 15 14 0 46
Neuberg Centre For Genomic Medicine, NCGM 19 5 19 0 0 0 43
Juno Genomics, Hangzhou Juno Genomics, Inc 30 12 0 0 0 0 42
Molecular Oncology, Hospital Universitario Central de Asturias (HUCA) 41 0 0 0 0 0 41
Variantyx, Inc. 37 1 0 0 0 0 38
MGZ Medical Genetics Center 28 8 0 1 0 0 37
Genologica Medica 36 0 0 0 0 0 36
Molecular Endocrinology Laboratory, Christian Medical College 9 1 25 0 0 0 35
Baylor Genetics 9 4 19 0 0 0 32
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 7 4 14 0 0 0 25
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 5 0 15 2 3 0 25
Institute of Human Genetics, Medical University Innsbruck 21 2 0 0 0 0 23
Department of Human Genetics, Hannover Medical School 17 0 2 1 0 0 20
Genomic Research Center, Shahid Beheshti University of Medical Sciences 12 0 4 1 3 0 20
Centre for Mendelian Genomics, University Medical Centre Ljubljana 9 2 7 1 0 0 19
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 16 1 0 0 0 0 17
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited 0 0 0 0 16 0 16
OMIM 14 0 2 0 0 0 16
King Laboratory, University of Washington 14 0 1 0 0 0 15
Department of Medical Genetics, University Hospital of North Norway 0 0 7 6 1 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 9 0 1 2 0 0 12
MVZ Praenatalmedizin und Genetik Nuernberg 5 0 7 0 0 0 12
deCODE genetics, Amgen 1 11 0 0 0 0 12
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 3 5 0 0 0 11
Division of Medical Genetics, University of Washington 5 0 5 0 0 0 10
Helix 6 0 3 0 0 0 9
Human Genetics Bochum, Ruhr University Bochum 5 2 2 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 0 0 2 1 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 3 0 0 0 0 8
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 4 0 0 1 2 0 7
Institute of Genomics, University of Tartu 7 0 0 0 0 0 7
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 2 0 5 0 0 0 7
New York Genome Center 6 1 0 0 0 0 7
Clinical Genetics Laboratory, Skane University Hospital Lund 4 1 1 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Johns Hopkins Genomics, Johns Hopkins University 4 1 0 0 1 0 6
3billion 4 0 1 0 0 0 5
Bioinformatics dept., Datar Cancer Genetics Limited, India 5 0 0 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 4 1 0 0 0 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 1 3 0 0 0 5
Genetic Services Laboratory, University of Chicago 5 0 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 0 0 0 0 0 5
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 5 0 0 0 0 0 5
Institute of Immunology and Genetics Kaiserslautern 3 1 1 0 0 0 5
Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse 3 0 2 0 0 0 5
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 4 1 0 0 0 0 5
OLLIN Analises Genomicas, OLLIN 4 0 1 0 0 0 5
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 4 0 0 0 0 0 4
EVOGEN 0 4 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 3 0 0 0 4
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 4 0 0 0 0 4
Hadassah Hebrew University Medical Center 4 0 0 0 0 0 4
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 4 0 0 0 0 0 4
Laan Lab, Human Genetics Research Group, University of Tartu 4 0 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 3 0 0 0 4
University of Washington Department of Laboratory Medicine, University of Washington 1 2 0 1 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 0 0 0 0 0 3
Clinical Cancer Genomics Laboratory, City of Hope Comprehensive Cancer Center 0 3 0 0 0 0 3
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 3 0 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 3 0 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 3 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 3
Institute of Human Genetics, Heidelberg University 2 1 0 0 0 0 3
MVZ Medizinische Genetik Mainz 2 0 1 0 0 0 3
Medical Genetics Laboratory, Aydin Adnan Menderes University 0 3 0 0 0 0 3
Otogenetics 3 0 0 0 0 0 3
Academic Center for Education, Culture and Research, Motamed Cancer Institute 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 2
Biotechnology, Institute of Science, Nirma University 1 1 0 0 0 0 2
CHARM Consortium 0 0 0 0 0 2 2
Center of Medical Genetics and Primary Health Care 2 0 0 0 0 0 2
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 1 0 1 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 0 0 0 0 2
Clinical and Functional Genomics Group, A.C.Camargo Cancer Center 1 1 0 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 1 0 0 0 0 2
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 0 0 2 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 2
Molecular Diagnostics, Rajiv Gandhi Cancer Institute & Research Center 1 0 1 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Cancer Genomics Lab, PINUM Cancer Hospital 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Clinical and Molecular Pathology, Medical Center Transhelix 1 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 0 1 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 1 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genetic Diagnosis Center, Faculty of Medicine, Trakya University 0 1 0 0 0 0 1
Genetics Department, Catlab 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Hereditary Cancer Clinic, Medical College of Georgia 0 0 0 1 0 0 1
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 1 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Istenhegyi Gendiagnosztika Kft 0 1 0 0 0 0 1
Kong lab, Department of Laboratory Medicine, National Cancer Center 0 0 1 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 1
Medical Genetics, Medical University Pleven 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Section, Niloo Genom lab 1 0 0 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 0 0 0 1 0 0 1
Research and Development Unit, inDNA Life Sciences Pvt. Ltd. 1 0 0 0 0 0 1
School of Basic Medicine, Fourth Military Medical University 0 1 0 0 0 0 1
Shiraz Institute for Cancer Research, Shiraz University of Medical Sciences 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1

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