ClinVar Miner

Variants from Rare Disease Group, Clinical Genetics,Karolinska Institutet with conflicting interpretations

Location: Sweden — Primary collection method: clinical testing
Minimum review status of the submission from Rare Disease Group, Clinical Genetics,Karolinska Institutet: Collection method of the submission from Rare Disease Group, Clinical Genetics,Karolinska Institutet:
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
93 8 0 6 5 1 15 21

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
Rare Disease Group, Clinical Genetics,Karolinska Institutet pathogenic likely pathogenic uncertain significance likely benign benign association drug response
pathogenic 0 1 2 1 1 1 1
likely pathogenic 6 0 3 2 1 1 1
uncertain significance 10 6 0 4 3 1 1
likely benign 1 1 2 0 1 1 1
benign 1 1 1 1 0 1 1

Submitter to submitter summary #

Total submitters: 107
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 2 0 3 4 0 5 10
GeneDx 0 3 0 2 1 0 7 8
Illumina Clinical Services Laboratory,Illumina 0 0 0 2 4 0 5 8
OMIM 0 2 0 3 0 0 4 7
Baylor Genetics 0 0 0 1 0 0 4 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 2 0 1 2 0 3 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 2 0 0 2 3
Dan Cohn Lab,University Of California Los Angeles 0 2 0 2 0 0 1 3
Athena Diagnostics Inc 0 0 0 1 1 0 2 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 1 1 0 1 2
Ambry Genetics 0 1 0 1 0 0 1 2
GeneReviews 0 0 0 1 0 0 2 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 1 0 0 2 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 1 0 2 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 1 0 2 2
Undiagnosed Diseases Network,NIH 0 0 0 1 1 0 2 2
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 0 0 2 1 0 1 2
Raymond Lab,University of Cambridge 0 0 0 1 0 0 2 2
Collagen Diagnostic Laboratory,University of Washington 0 0 0 1 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 0 0 1 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 1 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 1 0 1 1 0 1 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 0 0 0 1 0 0 1 1
Fulgent Genetics,Fulgent Genetics 0 0 0 0 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 1 0 1 1
PXE International 0 0 0 1 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 1 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 1 1 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
Department of Medical Genetics,Oslo University Hospital 0 0 0 1 0 0 1 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 1 1
University of British Columbia 0 0 0 1 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 1 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
Science and Research Branch, Islamic Azad University,Islamic Azad University 0 0 0 1 0 0 1 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 1 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
Neurogenetics of motion laboratory,Montreal Neurological Institute 0 0 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 1 0 1 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 1 0 0 1 1
UW Hindbrain Malformation Research Program,University of Washington 0 1 0 0 0 0 1 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 1 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 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 1 0 0 1 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 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 1 0 1 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 1 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 1 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
Geschwind lab,University of California Los Angeles 0 0 0 1 1 1 1 1
Clinical Cytogenomics Laboratory,Center for Precision Diagnostics, University of Washington 0 0 0 1 0 0 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 1 0 0 1 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 1 1 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 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
Robarts Research Institute,Western University 0 0 0 1 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
Tim Yu lab,Boston Children's Hospital 0 0 0 1 0 0 1 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 0 1 0 0 1 1
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 0 0 0 0 0 1 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 1 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 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
Rare Disease Group, Clinical Genetics,Karolinska Institutet 119 2 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 1 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
Molecular Genetics Laboratory,State University of Campinas 0 0 0 1 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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 0 0 1 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 1 0 0 1 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 0 0 1 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 1 1 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 1 1 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 1 1 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 1 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 1 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 1 0 0 1 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 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 1 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: 21
Download table as spreadsheet
HGVS dbSNP
NM_001079668.3(NKX2-1):c.646del (p.Leu216fs) rs1555349214
NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]
NM_001286577.1(C2CD3):c.5227G>T (p.Gly1743Cys) rs1064793399
NM_001286577.1(C2CD3):c.5267G>A (p.Gly1756Glu) rs150291837
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) rs1565317399
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) rs431905498
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222
NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser) rs200735885
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501
NM_002693.2(POLG):c.679C>T (p.Arg227Trp) rs121918056
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) rs397515568
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) rs201780665
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662
Single allele

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