ClinVar Miner

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

Included ClinVar conditions (4):
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
2726 112 1195 691 757 2 3920 8205

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
BRCA1 2683 112 1179 682 731 0 3920 8111
BRCA1, LOC111589215 1 0 11 9 8 0 0 27
BRCA2 18 0 0 0 0 0 0 18
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
RAD51C 1 0 0 0 0 1 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
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
NBN 0 0 0 0 0 1 0 1
PALB2 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Brotman Baty Institute,University of Washington 0 0 0 0 0 0 3893 3893
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 2229 0 4 441 667 0 1 3342
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 1614 0 0 0 0 0 0 1614
Sharing Clinical Reports Project (SCRP) 443 25 229 78 120 0 1 896
Counsyl 118 53 216 142 54 0 0 583
Mendelics 28 12 53 71 37 0 0 201
Illumina Clinical Services Laboratory,Illumina 1 0 75 34 22 0 0 132
Quest Diagnostics Nichols Institute San Juan Capistrano 82 7 35 0 0 0 0 124
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
Fulgent Genetics,Fulgent Genetics 27 0 25 13 3 0 0 68
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
Division of 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 11 0 0 3 3 0 0 17
King Laboratory,University of Washington 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 9 0 0 0 0 0 0 9
Bioinformatics dept.,Datar Cancer Genetics Limited, India 9 0 0 0 0 0 0 9
Liquid Biopsy and Precision Medicine 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
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
Division of Medical Genetics, University of Washington 2 0 2 0 0 0 0 4
Human Genetics Institute Leipzig, Universitätsklinikum Leipzig 3 0 0 0 0 0 0 3
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
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
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 Ljubljana 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
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's 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
Center of Medical Genetics and Primary Health Care 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
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Snyder Lab, Genetics Department,Stanford University 1 0 0 0 0 0 0 1
International Hereditary Cancer Center PUM,Pomeranian Medical University 0 0 0 1 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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