ClinVar Miner

Variants studied for Breast-ovarian cancer, familial 1

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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 risk factor not provided total
2714 102 1114 646 703 1 35 4787

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 risk factor not provided total
BRCA1 2671 102 1106 642 678 0 35 4707
BRCA2 18 0 0 0 0 0 0 18
BRCA1, LOC111589215 1 0 6 4 7 0 0 17
BRCA1, LOC110485084, LOC111589215, LOC111589216 16 0 0 0 0 0 0 16
BRCA1, NBR2 0 0 0 0 9 0 0 9
BRCA1, LOC111589215, NBR2 1 0 0 0 7 0 0 8
BRCA1, LOC110485084, LOC111589216 4 0 0 0 1 0 0 5
​intergenic 0 0 2 0 0 0 0 2
BRCA1, LOC110485084, LOC111589215, LOC111589216, RND2 2 0 0 0 0 0 0 2
BRCA1, LOC110485084 0 0 0 0 1 0 0 1
BRCA1, LOC110485084, LOC111589215, LOC111589216, NBR2 1 0 0 0 0 0 0 1
NBN 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 2189 0 3 441 606 0 0 3239
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 1625 0 0 0 0 0 0 1625
Sharing Clinical Reports Project (SCRP) 443 25 229 78 120 0 1 896
Counsyl 118 53 216 142 54 0 0 583
Quest Diagnostics Nichols Institute San Juan Capistrano 85 7 40 0 0 0 0 132
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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 65 0 1 9 27 0 0 102
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 45 0 3 9 35 0 0 92
Genome Diagnostics Laboratory,University Medical Center Utrecht 17 0 1 10 25 0 0 53
OMIM 38 0 2 0 0 1 0 41
Pathway Genomics 14 2 7 13 4 0 0 40
University of Washington Department of Laboratory Medicine,University of Washington 27 0 3 0 0 0 0 30
Genologica Medica 27 1 0 0 0 0 0 28
Fulgent Genetics 6 0 4 13 1 0 0 24
Division Human Genetics,Medical University Innsbruck 20 1 0 0 0 0 0 21
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 16 2 0 0 0 0 0 18
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 7 0 4 0 1 0 0 12
Genetic Services Laboratory, University of Chicago 10 0 0 0 0 0 0 10
Bioinformatics dept.,Datar Cancer Genetics Limited, India 9 0 0 0 0 0 0 9
GeneKor MSA 5 0 0 0 0 0 0 5
MVZ Praenatalmedizin und Genetik Nuernberg 2 0 2 1 0 0 0 5
Centro de Genética y Biología Molecular,Universidad de San Martín de Porres 3 1 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 0 0 0 0 2
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 2 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
Clinical Molecular and Personalized Diagnostics,Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital Agostino Gemelli Foundation 2 0 0 0 0 0 0 2
Eone-Diagnomics Genome Center 0 0 2 0 0 0 0 2
Academic Center for Education, Culture and Research, Motamed Cancer Institute 2 0 0 0 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 1 0 0 0 2
Department of Molecular Diagnostics,Institute of Oncology 0 2 0 0 0 0 0 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 0 1
Department of Medical Genetics,National Institute of Health 1 0 0 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 0 1
Centre for Molecular Diagnostics & Cell Biology,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
UOSA Diagnostica Molecolare e Genomica,IRCCS Policlinico Agostino Gemelli 1 0 0 0 0 0 0 1

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