ClinVar Miner

Variants studied for breast-ovarian cancer, familial, susceptibility to, 2

Included ClinVar conditions (9):
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
3160 231 2063 1297 892 31 6749

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRCA2 3152 230 2055 1291 883 31 6718
BRCA2, LOC106721785 0 0 5 6 4 0 14
BRCA1 1 1 3 0 0 0 5
BRCA2, LOC112163653 2 0 0 0 1 0 3
BRCA2, LOC106721785, ZAR1L 0 0 0 0 2 0 2
BRCA2, LOC130009523 0 0 0 0 2 0 2
​intergenic 1 0 0 0 0 0 1
BRCA2, FRY, RXFP2, ZAR1L 1 0 0 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

Submitter and significance breakdown #

Total submitters: 107
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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
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
BRCAlab, Lund University 221 8 129 64 49 0 471
Mendelics 24 20 137 123 45 0 349
Fulgent Genetics, Fulgent Genetics 69 5 77 39 22 0 212
Illumina Laboratory Services, Illumina 4 0 97 79 28 0 208
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
KCCC/NGS Laboratory, Kuwait Cancer Control Center 36 4 57 19 75 0 191
Myriad Genetics, Inc. 133 5 0 37 10 0 185
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 Pathology and Laboratory Medicine, Sinai Health System 37 0 37 21 11 0 106
Department of Medical Genetics, Oslo University Hospital 81 7 0 0 0 0 88
Quest Diagnostics Nichols Institute San Juan Capistrano 43 4 23 0 0 0 70
Institute of Human Genetics, University of Leipzig Medical Center 31 7 17 1 1 0 57
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
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 7 3 18 0 0 0 28
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 4 0 24 0 0 0 28
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 11 2 15 0 0 0 28
Laboratory of Molecular and Cellular Biology, University of Science and Technology Houari Boumediene 5 0 15 2 3 0 25
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 7 4 13 0 0 0 24
Institute of Human Genetics, Medical University Innsbruck 21 2 0 0 0 0 23
Genomic Research Center, Shahid Beheshti University of Medical Sciences 12 0 4 1 3 0 20
ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen 7 2 1 3 7 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
King Laboratory, University of Washington 14 0 1 0 0 0 15
OMIM 12 0 2 0 0 0 14
Department of Medical Genetics, University Hospital of North Norway 0 0 7 6 1 0 14
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 3 0 0 0 0 8
Human Genetics Bochum, Ruhr University Bochum 4 2 2 0 0 0 8
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 4 0 0 1 2 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
Institute of Genomics, University of Tartu 7 0 0 0 0 0 7
MVZ Praenatalmedizin und Genetik Nuernberg 3 0 3 0 0 0 6
Genetic Services Laboratory, University of Chicago 5 0 0 0 0 0 5
Bioinformatics dept., Datar Cancer Genetics Limited, India 5 0 0 0 0 0 5
Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse 3 0 2 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 4 0 0 0 1 0 5
New York Genome Center 5 0 0 0 0 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 1 3 0 0 0 5
Laan Lab, Human Genetics Research Group, University of Tartu 4 1 0 0 0 0 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
University of Washington Department of Laboratory Medicine, University of Washington 1 2 0 1 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 4 0 0 0 0 0 4
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 4 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic 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
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
Institute of Human Genetics, University of Goettingen 0 1 1 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 Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 1 0 1 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 2
Center of Medical Genetics and Primary Health Care 2 0 0 0 0 0 2
Molecular Diagnostics, Rajiv Gandhi Cancer Institute & Research Center 1 0 1 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 2
Academic Center for Education, Culture and Research, Motamed Cancer Institute 2 0 0 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
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Shiraz Institute for Cancer Research, Shiraz University of Medical Sciences 0 1 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 0 1
School of Basic Medicine, Fourth Military Medical University 0 1 0 0 0 0 1
Istenhegyi Gendiagnosztika Kft 0 1 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Medical Genetics, Medical University Pleven 1 0 0 0 0 0 1
Genetic Diagnosis Center, Faculty of Medicine, Trakya University 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
Molecular Section, Niloo Genom lab 1 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Cancer Genomics Lab, PINUM Cancer Hospital 1 0 0 0 0 0 1
Hereditary Cancer Unit, Hospital Universitario 12 de Octubre 1 0 0 0 0 0 1
Research and Development Unit, inDNA Life Sciences Pvt. Ltd. 1 0 0 0 0 0 1

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