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 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
33 12 0 15 3 1 9 24

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 association drug response protective
pathogenic 0 3 4 1 2 1 1 1
likely pathogenic 12 0 2 0 0 0 0 0
uncertain significance 1 1 0 2 2 0 0 0

Submitter to submitter summary #

Total submitters: 66
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
GeneDx 0 12 0 6 2 0 3 11
Invitae 0 9 0 5 2 0 1 7
OMIM 0 2 0 4 0 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 3 0 3 0 0 2 4
Baylor Genetics 0 1 0 1 0 0 2 3
GeneReviews 0 6 0 3 0 0 0 3
Athena Diagnostics Inc 0 2 0 0 1 0 1 2
Genetic Services Laboratory, University of Chicago 0 7 0 1 0 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 1 0 0 1 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 0 0 1 0 0 1 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 0 1 0 0 1 2
Mendelics 0 3 0 0 1 0 1 2
Institute of Human Genetics,Klinikum rechts der Isar 0 2 0 2 0 0 0 2
RettBASE 0 2 0 2 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 1 0 1 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 0 0 1 0 1 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 1 0 0 0 1
Ambry Genetics 0 4 0 1 0 0 0 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 0 0 1 1
Counsyl 0 0 0 0 0 0 1 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 0 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 0 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 0 0 1 0 0 0 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 0 1
University of British Columbia 0 0 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 0 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 0 0 1 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
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 1 0 0 0 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 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
Geschwind lab,University of California Los Angeles 0 0 0 1 0 1 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 1 0 0 0 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 0 0 1 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
Robarts Research Institute,Western University 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 1 1
Undiagnosed Diseases Network,NIH 0 1 0 1 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 0 0 1 1
Department of Obstetrics and Gynecology,Helsinki University Hospital 0 0 0 1 0 0 0 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
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 1 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
Broad Institute Rare Disease Group,Broad Institute 0 0 0 1 0 0 0 1
Michaelson Lab,University of Iowa 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
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 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: 24
Download table as spreadsheet
HGVS dbSNP
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp) rs886039530
NM_001040142.2(SCN2A):c.2687C>T (p.Ala896Val) rs1057519526
NM_001040142.2(SCN2A):c.3947C>T (p.Ala1316Val) rs796053130
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[1] (p.2300_2302DQL[1]) rs587784440
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_003159.2(CDKL5):c.2980G>A (p.Gly994Arg) rs866859766
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) rs886041691
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021072.4(HCN1):c.459G>C (p.Met153Ile) rs1057519548
NM_130838.3(UBE3A):c.947T>C (p.Met316Thr) rs863225071
NM_172107.3(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.3(KCNQ2):c.2329C>T (p.Pro777Ser) rs748400155
NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe) rs1057516094
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
Single allele

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