ClinVar Miner

Variants from Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc.: Collection method of the submission from Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc.:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
240 1 0 0 4 1 1 4

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. pathogenic likely pathogenic likely benign benign association drug response
uncertain significance 1 1 2 4 1 1

Submitter to submitter summary #

Total submitters: 111
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Invitae 0 0 0 0 4 0 1 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 3 0 1 4
Baylor Genetics 0 0 0 0 2 0 1 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 3 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 3 0 0 3
Counsyl 0 0 0 0 2 0 1 3
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 0 2 0 1 3
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 3 0 0 3
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 0 0 2 0 0 2
GeneDx 0 0 0 0 2 0 0 2
Ambry Genetics 0 0 0 0 2 0 0 2
PreventionGenetics,PreventionGenetics 0 0 0 0 2 0 0 2
Michigan Medical Genetics Laboratories,University of Michigan 0 0 0 0 2 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 2 0 0 2
Mendelics 0 0 0 0 2 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 0 2 0 0 2
GeneKor MSA 0 0 0 0 2 0 0 2
Color 0 0 0 0 2 0 0 2
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 0 0 0 2 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 0 2
Athena Diagnostics Inc 0 1 0 0 1 0 1 1
Collagen Diagnostic Laboratory,University of Washington 0 0 0 0 0 0 1 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 0 0 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 0 0 0 0 1 1
Sharing Clinical Reports Project (SCRP) 0 0 0 0 1 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 0 0 0 0 0 0 1 1
GeneReviews 0 0 0 0 0 0 1 1
Fulgent Genetics,Fulgent Genetics 0 0 0 0 1 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 0 0 0 1 1
Academic Department of Medical Genetics, University of Cambridge 0 0 0 0 0 0 1 1
PXE International 0 0 0 0 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 1 0 0 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 0 0 0 1 1
Pathway Genomics 0 0 0 0 1 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 0 0 0 0 0 1 1
Shaikh Laboratory, University of Colorado 0 0 0 0 0 0 1 1
University of British Columbia 0 0 0 0 0 0 1 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 0 0 0 1 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 0 0 1 1
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 0 0 0 0 0 0 1 1
Science and Research Branch, Islamic Azad University,Islamic Azad University 0 0 0 0 0 0 1 1
Centre of Medical Genetics, University of Antwerp 0 0 0 0 0 0 1 1
Institute for Ophthalmic Research,University Tuebingen 0 0 0 0 0 0 1 1
Dobyns Lab,Seattle Children's Research Institute 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 0 0 1 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 0 0 0 1 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 0 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 0 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 0 0 0 1 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 0 1 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 0 0 0 1 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 0 0 0 1 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 0 0 0 0 0 0 1 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 0 0 1 1
Vantari Genetics 0 0 0 0 1 0 0 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 0 0 0 0 1 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 0 0 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 0 0 1 1
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University,Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 0 0 0 1 0 0 1
Geschwind lab,University of California Los Angeles 0 0 0 0 0 1 1 1
Clinical Cytogenomics Laboratory,Center for Precision Diagnostics, University of Washington 0 0 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 0 0 0 1 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 0 0 0 1 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 0 0 1 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 0 0 0 0 0 1 1
Zuffardi lab,University of Pavia 0 0 0 0 0 0 1 1
Robarts Research Institute,Western University 0 0 0 0 0 0 1 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 0 0 0 1 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 0 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 0 0 0 1 1
Undiagnosed Diseases Network,NIH 0 0 0 0 0 0 1 1
Tim Yu lab,Boston Children's Hospital 0 0 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 0 0 0 0 1 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 0 1 0 1 1
Department of Medical Sciences,Uppsala University 0 0 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 0 1 0 1 1
Yang An-Suei Laboratory,Academia Sinica 0 0 0 0 0 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 0 0 0 1 1
Flegel Lab,National Institutes of Health 0 0 0 0 0 0 1 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 0 0 0 1 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 0 0 0 1 1
True Health Diagnostics 0 0 0 0 1 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 1 0 0 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 0 0 0 1 1
Emory University School of Medicine, Department of Human Genetics,Emory University 0 0 0 0 0 0 1 1
Clinical genetics,CHU Grenoble-Alpes 0 0 0 0 0 0 1 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 0 0 0 1 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 0 0 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 0 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 1 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 0 0 0 1 1
Raymond Lab,University of Cambridge 0 0 0 0 0 0 1 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 0 0 0 1 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 0 0 0 1 1
Inherited Eye Disorders lab,UCL Institute of Ophthalmology 0 0 0 0 0 0 1 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 0 0 0 1 1
Clinical Genetics Research Group,Karolinska Institutet 0 0 0 0 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.7397= (p.Ala2466=) rs169547
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
Single allele

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