ClinVar Miner

Variants from Arcensus with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Arcensus: Collection method of the submission from Arcensus:
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
32 14 0 33 1 0 5 36

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
Arcensus pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 8 1 0
likely pathogenic 25 0 3 0
uncertain significance 1 1 0 1

Submitter to submitter summary #

Total submitters: 53
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 17 0 11 0 0 1 12
OMIM 0 5 0 5 0 0 1 6
Counsyl 0 8 0 6 0 0 0 6
Baylor Genetics 0 12 0 4 0 0 0 4
Illumina Laboratory Services, Illumina 0 3 0 1 1 0 2 4
Myriad Genetics, Inc. 0 3 0 4 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 0 3 0 0 1 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 7 0 3 0 0 0 3
CFTR-France 0 4 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 4 0 3 0 0 0 3
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 1 0 2 0 0 0 2
Clinical Biochemistry Laboratory, Health Services Laboratory 0 0 0 2 0 0 0 2
Revvity Omics, Revvity 0 9 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 11 0 2 0 0 0 2
Mendelics 0 3 0 2 0 0 0 2
CFTR2 0 3 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 2 0 2 0 0 0 2
LDLR-LOVD, British Heart Foundation 0 2 0 2 0 0 0 2
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 0 2 0 0 0 2
Robarts Research Institute, Western University 0 0 0 2 0 0 0 2
Genome-Nilou Lab 0 9 0 2 0 0 0 2
All of Us Research Program, National Institutes of Health 0 6 0 1 0 0 1 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 2 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 1 0 0 0 1
Ambry Genetics 0 5 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 1 0 0 0 1
MGZ Medical Genetics Center 0 3 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 2 0 1 0 0 0 1
GeneReviews 0 3 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 2 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 1 0 0 0 1
Fundacion Hipercolesterolemia Familiar 0 1 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 2 0 1 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 0 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 1 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 0 1 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00013
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys) rs148562777 0.00012
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00010
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr) rs777578399 0.00003
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162 0.00001
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) rs751078884 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000053.4(ATP7B):c.2513del (p.Lys838fs) rs777362050
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000138.5(FBN1):c.2563C>T (p.Gln855Ter) rs1057519502
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs) rs748829376
NM_000179.3(MSH6):c.2759del (p.Lys920fs) rs1114167794
NM_000218.3(KCNQ1):c.1686-2A>G rs878854350
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) rs397508109
NM_000321.3(RB1):c.2663G>A (p.Ser888Asn) rs1555295354
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn) rs397508198
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile) rs151048781
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.283T>C (p.Cys95Arg) rs879254456
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.44_45del (p.Cys15fs) rs750965140
NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter) rs730881888
NM_024675.4(PALB2):c.2353_2354del (p.Pro785fs) rs2142374907
NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter) rs398122980
NM_207581.4(DUOXA2):c.228G>C (p.Trp76Cys)

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