ClinVar Miner

Variants from Dept. of Medical Genetics, Telemark Hospital Trust with conflicting interpretations

Location: Norway — Primary collection method: research
Minimum review status of the submission from Dept. of Medical Genetics, Telemark Hospital Trust: Collection method of the submission from Dept. of Medical Genetics, Telemark Hospital Trust:
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
12 7 1 2 2 2 6 9

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
Dept. of Medical Genetics, Telemark Hospital Trust pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor
pathogenic 1 1 0 1 1 0 0 0 0
likely pathogenic 1 0 4 2 2 1 1 1 0
uncertain significance 2 1 0 2 1 1 1 1 1

Submitter to submitter summary #

Total submitters: 110
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 8 0 1 2 0 4 5
GeneDx 0 3 0 1 2 0 3 4
OMIM 0 2 0 0 0 1 2 3
Athena Diagnostics Inc 0 1 0 1 1 0 2 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 2 0 1 0 0 2 2
GeneReviews 0 0 1 1 0 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 0 0 0 2 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 2 2
Baylor Genetics 0 1 0 1 0 0 1 1
Collagen Diagnostic Laboratory,University of Washington 0 0 0 1 0 0 1 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 0 0 0 0 1 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 0 0 0 1 1
Ambry Genetics 0 1 0 0 0 0 1 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 0 0 1 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 0 0 0 0 1 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 1 0 0 1 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 0 1 0 0 1 1
Counsyl 0 0 0 1 0 0 1 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 0 0 1 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 0 0 0 1 0 0 1 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 1 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 1 1
Academic Department of Medical Genetics, University of Cambridge 0 0 0 1 0 0 1 1
PXE International 0 0 0 1 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 1 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 1 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 1 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 1 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 3 0 0 1 0 1 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
CSER _CC_NCGL, University of Washington 0 0 0 0 0 0 1 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 0 0 0 1 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 1 0 0 1 1
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 0 0 0 1 0 0 1 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Science and Research Branch, Islamic Azad University,Islamic Azad University 0 0 0 1 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 0 0 0 1 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
Centre of Medical Genetics, University of Antwerp 0 0 0 1 0 0 1 1
Institute for Ophthalmic Research,University Tuebingen 0 0 0 1 0 0 1 1
Dobyns Lab,Seattle Children's Research Institute 0 0 0 1 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 0 1 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 1 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 1 0 0 1 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 1 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 1 0 0 1 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 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 1 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 1 0 0 1 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 0 0 1 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 0 1 0 0 1 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 0 0 1 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 1 0 0 1 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 0 0 0 1 1
Geschwind lab,University of California Los Angeles 0 0 0 1 0 1 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 1 0 0 1 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 0 0 0 1 1
Color 0 0 0 0 0 0 1 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 1 0 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 1 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 1 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 0 0 1 0 0 1 1
Zuffardi lab,University of Pavia 0 0 0 1 0 0 1 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 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 1 0 0 1 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 1 1
Undiagnosed Diseases Network,NIH 0 0 0 1 0 0 1 1
Tim Yu lab,Boston Children's Hospital 0 0 0 1 0 0 1 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 1 0 0 1 1
Medical Genetics Laboratory,Aldo Moro University of Bari 0 0 0 1 0 0 1 1
Herman Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 1 0 1 1
Department of Medical Sciences,Uppsala University 0 0 0 1 0 0 1 1
Department of Obstetrics and Gynecology,Helsinki University Hospital 0 0 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 1 0 1 1
Yang An-Suei Laboratory,Academia Sinica 0 0 0 1 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 1 0 0 1 1
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 1 0 0 1 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 1 0 1 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 1 0 0 1 1
Clinical genetics,CHU Grenoble-Alpes 0 0 0 1 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 0 0 1 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 1 0 0 1 1
Dept. of Medical Genetics, Telemark Hospital Trust 27 0 0 0 0 0 1 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 1 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 1 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 1 0 0 1 1
Raymond Lab,University of Cambridge 0 0 0 1 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 1 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 1 0 0 1 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 1 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 0 0 1 1
Clinical Genetics Research Group,Karolinska Institutet 0 0 0 1 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: 9
Download table as spreadsheet
HGVS dbSNP
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246
NM_001164731.2(REEP1):c.524A>G (p.Ter175Trp) rs587781248
NM_004082.4(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344
NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr) rs587777712
NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) rs373698346
NM_022041.3(GAN):c.730A>G (p.Ile244Val) rs200749953
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
Single allele

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