ClinVar Miner

Variants from Neurogenetics Laboratory - MEYER, AOU Meyer with conflicting interpretations

Location: Italy  Primary collection method: clinical testing
Minimum review status of the submission from Neurogenetics Laboratory - MEYER, AOU Meyer: Collection method of the submission from Neurogenetics Laboratory - MEYER, AOU Meyer:
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
44 18 0 7 0 1 3 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
Neurogenetics Laboratory - MEYER, AOU Meyer pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 0 2 1 1 1 1 1
likely pathogenic 5 0 1 0 0 0 0
uncertain significance 1 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 57
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
GeneDx 0 10 0 4 0 0 2 5
Invitae 0 4 0 0 0 0 2 2
Eurofins Ntd Llc (ga) 0 0 0 2 0 1 1 2
CeGaT Center for Human Genetics Tuebingen 0 6 0 1 0 0 1 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 2 0 0 1 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 1 0 0 1 2
3billion 0 0 0 2 0 0 0 2
OMIM 0 1 0 1 0 0 0 1
Athena Diagnostics Inc 0 1 0 1 0 0 1 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 2 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 0 0 1 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 1 0 0 0 1
Ambry Genetics 0 0 0 0 0 0 1 1
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 1 1
MGZ Medical Genetics Center 0 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 1 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 0 0 0 1 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 1 0 0 0 1
RettBASE 0 2 0 1 0 0 0 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
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 1 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 1 0 0 1 1
Yale Center for Mendelian Genomics, Yale University 0 0 0 1 0 0 0 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
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 0 1 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 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 1 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 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 1 0 0 0 1
Rare Disease Group, University of Exeter 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
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 0 1 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 1 0 0 0 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 1 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 0 0 1 0 0 0 1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 0 0 0 1 0 0 0 1
Centre for Population Genomics, CPG 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp) rs886039530
NM_001040142.2(SCN2A):c.3947C>T (p.Ala1316Val) rs796053130
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546
NM_130839.5(UBE3A):c.1007T>C (p.Met336Thr) rs863225071
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
Single allele

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