ClinVar Miner

Variants studied for Breast-ovarian cancer, familial 2

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Gene type:
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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
2956 144 1706 1070 820 25 6037

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRCA2 2952 144 1705 1070 813 25 6025
BRCA2, LOC106721785 0 0 1 0 6 0 7
BRCA2, LOC112163653 1 0 0 0 1 0 2
​intergenic 1 0 0 0 0 0 1
BRCA1 1 0 0 0 0 0 1
BRCA2, LOC106721785, LOC112163653 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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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) 2640 0 1 738 640 0 4019
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 1701 0 0 0 0 0 1701
Sharing Clinical Reports Project (SCRP) 520 21 584 145 192 0 1462
Counsyl 140 101 433 189 64 0 927
Michigan Medical Genetics Laboratories,University of Michigan 48 2 34 32 91 0 207
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 67 0 8 50 75 0 200
Quest Diagnostics Nichols Institute San Juan Capistrano 106 5 61 0 0 0 172
Genome Diagnostics Laboratory,University Medical Center Utrecht 24 2 3 55 60 0 144
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 77 1 5 12 46 0 141
Department of Medical Genetics,Oslo University Hospital 81 7 0 0 0 0 88
Pathway Genomics 7 0 10 15 14 0 46
Fulgent Genetics 8 1 10 17 8 0 44
Genologica Medica 36 0 0 0 0 0 36
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 29 2 0 0 0 0 31
Division Human Genetics,Medical University Innsbruck 21 2 0 0 0 0 23
Genomic Research Center,Shahid Beheshti University of Medical Sciences 5 1 6 1 2 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
HudsonAlpha Institute for Biotechnology 7 1 0 0 0 0 8
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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 3 2 0 0 0 0 5
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 3 0 2 0 0 0 5
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 3 0 0 0 4
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 3 0 0 0 4
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 3 0 0 0 0 0 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 3 0 0 3
Centro de Genética y Biología Molecular,Universidad de San Martín de Porres 1 0 1 0 0 0 2
Centre for Molecular Diagnostics & Cell Biology,Rajiv Gandhi Cancer Institute & Research Center 1 0 1 0 0 0 2
Academic Center for Education, Culture and Research, Motamed Cancer Institute 2 0 0 0 0 0 2
GeneReviews 1 0 0 0 0 0 1
Shiraz Institute for Cancer Research, Shiraz University of Medical Sciences 0 1 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Core Molecular Diagnostic Lab,McGill University Health Centre 0 1 0 0 0 0 1

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