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 per condition Variants with at least 2 submissions on the same condition 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 conflict
90 4 0 4 5 1 5 11

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 drug response protective other
pathogenic 0 2 1 1 1 1 1 1
likely pathogenic 3 0 2 2 1 1 1 1
uncertain significance 2 3 0 3 3 1 1 1
likely benign 1 1 2 0 1 1 1 1
benign 1 1 1 1 0 1 1 1

Submitter to submitter summary #

Total submitters: 53
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Invitae 0 2 0 2 4 0 2 6
GeneDx 0 1 0 2 1 0 4 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 0 1 2 1 2 3
Athena Diagnostics Inc 0 0 0 1 1 0 2 2
Illumina Clinical Services Laboratory,Illumina 0 0 0 1 1 0 2 2
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 2 0 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 1 0 2 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 2 2
Baylor Genetics 0 0 0 1 0 0 1 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 0 1 0 1 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 1 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 1 1 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 1 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 0 0 0 0 0 1 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 1 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 1 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 1 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 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
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 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
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 1 0 1 1
Undiagnosed Diseases Network,NIH 0 0 0 1 1 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 1 1 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 1 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 1 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 104 0 0 1 1 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
Dan Cohn Lab,University Of California Los Angeles 0 1 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 0 0 0 1 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 1 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
Genetics and Genomics, Alberta Children's Hospital 0 0 0 0 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 1 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 1 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Central Laboratory,The First Hospital of Lanzhou University 0 0 0 1 0 0 1 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 1 0 0 1 1
New York Genome Center 0 0 0 0 1 0 1 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 1 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 0 0 0 1 1 0 1 1
Wilkie Group, Clinical Genetics Lab, WIMM,University of Oxford 0 0 0 1 0 0 1 1

All variants with conflicting interpretations #

Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047
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_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662
Single allele

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