ClinVar Miner

Variants from Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn: Collection method of the submission from Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn:
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
222 65 0 30 7 2 17 53

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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn pathogenic likely pathogenic uncertain significance likely benign benign affects
pathogenic 0 12 2 1 0 1
likely pathogenic 17 0 6 1 1 0
uncertain significance 4 4 0 5 3 0
likely benign 0 0 0 0 1 0
risk factor 1 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 59
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 23 0 6 5 0 6 17
OMIM 0 23 0 5 0 1 0 6
Baylor Genetics 0 14 0 3 0 0 1 4
Genome-Nilou Lab 0 5 0 1 1 0 2 4
GeneDx 0 6 0 0 1 0 2 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 9 0 2 0 0 1 3
Mendelics 0 3 0 1 0 1 1 3
Institute of Human Genetics, University of Leipzig Medical Center 0 12 0 2 0 0 1 3
Genomics England Pilot Project, Genomics England 0 1 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 3 0 2 0 0 0 2
Revvity Omics, Revvity 0 11 0 1 0 0 1 2
Counsyl 0 6 0 1 0 0 1 2
Natera, Inc. 0 8 0 0 0 0 2 2
Fulgent Genetics, Fulgent Genetics 0 9 0 1 0 0 1 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 1 0 0 1 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 10 0 2 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 0 1 0 0 1 2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 0 1 0 1 0 2
Laboratory of Hematology, Radboud University Medical Center 0 0 0 1 0 1 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 5 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 8 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 2 0 1 0 0 0 1
Ambry Genetics 0 1 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 4 0 0 0 0 1 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 6 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
RettBASE 0 1 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 9 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 1 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 2 0 1 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 0 0 1 0 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 1 0 0 0 1
Wessex Regional Genetics Laboratory, Salisbury District Hospital 0 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 7 0 0 0 0 1 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1 1
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 4 0 0 1 0 0 1
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 0 0 1 0 0 0 1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 0 0 0 0 0 0 1 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 0 0 0 0 0 1 1
Institute of Immunology and Genetics Kaiserslautern 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: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_016335.6(PRODH):c.1217C>T (p.Pro406Leu) rs3970555 0.00149
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_021942.6(TRAPPC11):c.2388A>C (p.Gly796=) rs151021715 0.00089
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_001458.5(FLNC):c.3853G>A (p.Gly1285Ser) rs200928780 0.00011
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr) rs199849117 0.00008
NM_003482.4(KMT2D):c.12229C>T (p.Leu4077Phe) rs774148221 0.00003
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met) rs577667739 0.00003
NM_001195518.2(MICU1):c.735+1G>A rs369915689 0.00002
NM_006618.5(KDM5B):c.1834C>T (p.Arg612Ter) rs777362026 0.00002
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln) rs780619649 0.00001
NM_000531.6(OTC):c.68G>A (p.Arg23Gln) rs148660170 0.00001
NM_000540.3(RYR1):c.6584C>T (p.Pro2195Leu) rs772003357 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_017534.6(MYH2):c.5472+1G>A rs758888662 0.00001
NM_152564.5(VPS13B):c.11746-1G>A rs372327659 0.00001
NM_000038.6(APC):c.4786del (p.Gln1596fs)
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) rs903259179
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000937.5(POLR2A):c.418C>T (p.Arg140Trp) rs1329988533
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg) rs1688108689
NM_001184880.2(PCDH19):c.2675+1G>T
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001271.4(CHD2):c.2705A>G (p.His902Arg) rs2053935622
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter) rs779508996
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) rs587777620
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs) rs587783507
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_006009.4(TUBA1A):c.188C>T (p.Pro63Leu) rs2121247772
NM_006772.3(SYNGAP1):c.1802C>A (p.Ala601Glu) rs1761012352
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup) rs587777148
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys) rs2045826576
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser) rs2148711383
NM_012309.5(SHANK2):c.2439+1G>A rs2058899044
NM_014712.3(SETD1A):c.2665C>T (p.Arg889Trp)
NM_016628.5(WAC):c.381+4_381+7del rs1564400647
NM_019842.4(KCNQ5):c.730C>T (p.Arg244Cys) rs1314919218
NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter) rs1554041295
NM_024528.4(NKAP):c.989G>A (p.Arg330His) rs1603379780
NM_032656.4(DHX37):c.2020C>T (p.Arg674Trp) rs1954336272
NM_152564.5(VPS13B):c.3666+2T>C rs386834082
NM_205768.3(ZBTB18):c.142C>G (p.Arg48Gly) rs1135401770

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