ClinVar Miner

Variants from PXE International with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from PXE International: Collection method of the submission from PXE International:
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
296 28 0 16 0 1 34 46

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
PXE International pathogenic likely pathogenic uncertain significance likely benign benign association drug response
pathogenic 0 15 9 18 11 1 1
benign 1 1 0 1 0 0 0

Submitter to submitter summary #

Total submitters: 55
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 14 0 9 0 0 15 24
Invitae 0 1 0 1 0 0 11 11
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 0 0 6 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 2 0 1 0 0 5 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 0 4 5
Mendelics 0 1 0 2 0 0 1 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 2 3
Baylor Genetics 0 1 0 1 0 0 1 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 0 0 2 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 2 0 0 1 2
Sharon lab,Hadassah-Hebrew University Medical Center 0 1 0 1 0 0 1 2
OMIM 0 20 0 0 0 0 1 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
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 0 0 1 1
Counsyl 0 0 0 0 0 0 1 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
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 0 1 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
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 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
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 1 0 0 0 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
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
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
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
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
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 46
Download table as spreadsheet
HGVS dbSNP
NM_001171.5(ABCC6):c.*38G>A rs59461468
NM_001171.5(ABCC6):c.1077A>G (p.Ser359=) rs72664283
NM_001171.5(ABCC6):c.1141T>C (p.Leu381=) rs72664284
NM_001171.5(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762
NM_001171.5(ABCC6):c.1526C>G (p.Ala509Gly) rs779408186
NM_001171.5(ABCC6):c.1868-5T>G rs72664207
NM_001171.5(ABCC6):c.1990C>T (p.Pro664Ser) rs59002125
NM_001171.5(ABCC6):c.2247+22T>G rs72664298
NM_001171.5(ABCC6):c.2278C>T (p.Arg760Trp) rs72653788
NM_001171.5(ABCC6):c.2420G>A (p.Arg807Gln) rs72653794
NM_001171.5(ABCC6):c.2428G>A (p.Val810Met) rs72653795
NM_001171.5(ABCC6):c.2542del (p.Val848fs) rs67867306
NM_001171.5(ABCC6):c.2820T>G (p.Arg940=) rs72664286
NM_001171.5(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537
NM_001171.5(ABCC6):c.2848G>A (p.Ala950Thr) rs72657689
NM_001171.5(ABCC6):c.2855_2860TCCTCT[1] (p.952_953FL[1]) rs767359198
NM_001171.5(ABCC6):c.2904G>A (p.Leu968=) rs72664287
NM_001171.5(ABCC6):c.3143_3145del (p.Phe1048del) rs769437554
NM_001171.5(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174
NM_001171.5(ABCC6):c.3389C>T (p.Thr1130Met) rs63750459
NM_001171.5(ABCC6):c.3398G>C (p.Gly1133Ala) rs63750473
NM_001171.5(ABCC6):c.346-6G>A rs55778939
NM_001171.5(ABCC6):c.3491G>A (p.Arg1164Gln) rs63750457
NM_001171.5(ABCC6):c.3507-3C>T rs41278172
NM_001171.5(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472
NM_001171.5(ABCC6):c.3871G>A (p.Ala1291Thr) rs58694313
NM_001171.5(ABCC6):c.3883-24G>A rs59513011
NM_001171.5(ABCC6):c.3883-6G>A rs72664214
NM_001171.5(ABCC6):c.3941G>A (p.Arg1314Gln) rs63751086
NM_001171.5(ABCC6):c.3978C>T (p.Asp1326=) rs57499803
NM_001171.5(ABCC6):c.4016G>A (p.Arg1339His) rs63750622
NM_001171.5(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428
NM_001171.5(ABCC6):c.4081G>A (p.Asp1361Asn) rs58695352
NM_001171.5(ABCC6):c.4253G>A (p.Arg1418Gln) rs63751262
NM_001171.5(ABCC6):c.4254G>A (p.Arg1418=) rs58668703
NM_001171.5(ABCC6):c.487G>A (p.Asp163Asn) rs192110266
NM_001171.5(ABCC6):c.496C>T (p.Arg166Cys) rs201766106
NM_001171.5(ABCC6):c.600+23C>T rs72664290
NM_001171.5(ABCC6):c.662+12C>T rs1555520951
NM_001171.5(ABCC6):c.742C>T (p.Leu248Phe) rs72653756
NM_001171.5(ABCC6):c.754C>T (p.Leu252Phe) rs72653757
NM_001171.5(ABCC6):c.793A>G (p.Arg265Gly) rs72657698
NM_001171.5(ABCC6):c.841A>G (p.Lys281Glu) rs879274205
NM_001171.5(ABCC6):c.855C>T (p.Thr285=) rs4780605
NM_001171.5(ABCC6):c.955A>G (p.Ile319Val) rs72657699
Single allele

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