ClinVar Miner

Variants from Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University with conflicting interpretations

Location: Turkey — Primary collection method: research
Minimum review status of the submission from Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University: Collection method of the submission from Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University:
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
149 6 0 13 1 1 7 18

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
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University pathogenic likely pathogenic uncertain significance likely benign benign drug response protective other
pathogenic 0 2 1 1 1 1 1 1
likely pathogenic 11 0 3 0 0 0 0 0
uncertain significance 2 1 0 1 0 0 0 0
likely benign 1 0 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 44
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
OMIM 0 2 0 9 0 0 2 11
Invitae 0 2 0 1 0 0 4 5
GeneReviews 0 1 0 3 0 0 0 3
Illumina Clinical Services Laboratory,Illumina 0 1 0 1 1 0 1 3
GeneDx 0 2 0 2 0 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 0 0 2 2
Baylor Genetics 0 0 0 1 0 0 0 1
Athena Diagnostics Inc 0 0 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 0 0 1 1
Institute of Human Genetics,Cologne University 0 1 0 1 0 0 0 1
Mendelics 0 0 0 0 0 0 1 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 1 0 1 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 1 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 0 0 1 0 0 0 1
Department of Psychiatry,Nagoya University 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
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 1 1
Undiagnosed Diseases Network,NIH 0 0 0 1 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 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
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
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
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
New York Genome Center 0 0 0 0 0 0 1 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_000454.4(SOD1):c.122A>G (p.Glu41Gly) rs1568809149
NM_000454.4(SOD1):c.260A>G (p.Asn87Ser) rs11556620
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_001031726.3(C19orf12):c.32C>T (p.Thr11Met) rs397514477
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541
NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_007375.3(TARDBP):c.1042G>T (p.Gly348Cys) rs80356733
NM_007375.3(TARDBP):c.1144G>A (p.Ala382Thr) rs367543041
NM_007375.3(TARDBP):c.1147A>G (p.Ile383Val) rs80356740
NM_013254.4(TBK1):c.1436_1437del (p.Val479fs) rs876657405
NM_013444.3(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) rs267607143
NM_205836.3(FBXO38):c.1577G>A (p.Arg526Gln) rs376255193
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu) rs587777574
Single allele

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