ClinVar Miner

Variants from Genetics Department, University Hospital of Toulouse with conflicting interpretations

Location: France  Primary collection method: clinical testing
Minimum review status of the submission from Genetics Department, University Hospital of Toulouse: Collection method of the submission from Genetics Department, University Hospital of Toulouse:
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
72 4 0 3 0 1 2 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
Genetics Department, University Hospital of Toulouse pathogenic uncertain significance likely benign benign protective other
likely pathogenic 3 2 1 1 1 1

Submitter to submitter summary #

Total submitters: 42
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 4 0 1 0 0 2 2
OMIM 0 0 0 1 0 0 0 1
Baylor Genetics 0 0 0 1 0 0 0 1
Athena Diagnostics Inc 0 0 0 1 0 0 1 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 0 0 1 1
GeneDx 0 1 0 1 0 0 1 1
Ambry Genetics 0 0 0 0 0 0 1 1
PreventionGenetics, part of Exact Sciences 0 0 0 0 0 0 1 1
Elsea Laboratory, Baylor College of Medicine 0 0 0 1 0 0 0 1
Human Developmental Genetics Laboratory, Medical College of Wisconsin 0 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 1 0 1 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 1 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 1 1
Illumina Laboratory Services, Illumina 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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 1 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 0 0 0 1 1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 0 0 0 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 0 0 1 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 1 0 0 1 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 1 0 0 1 1
Flegel Lab, National Institutes of Health 0 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 0 0 1 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 0 1 0 0 0 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
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 1 0 0 0 1
Central Laboratory, The First Hospital of Lanzhou University 0 0 0 1 0 0 0 1
New York Genome Center 0 0 0 1 0 0 1 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 0 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) rs377669670 0.00007
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) rs387906855
NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys) rs755377651
Single allele

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