ClinVar Miner

Variants from Center of Genomic medicine, Geneva, University Hospital of Geneva with conflicting interpretations

Location: Switzerland  Primary collection method: clinical testing
Minimum review status of the submission from Center of Genomic medicine, Geneva, University Hospital of Geneva: Collection method of the submission from Center of Genomic medicine, Geneva, University Hospital of Geneva:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
228 100 1 67 3 0 25 89

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
Center of Genomic medicine, Geneva, University Hospital of Geneva pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 42 7 0 1
likely pathogenic 25 0 9 0 0
uncertain significance 4 5 0 3 1

Submitter to submitter summary #

Total submitters: 109
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
Labcorp Genetics (formerly Invitae), Labcorp 0 48 0 12 1 0 7 20
Fulgent Genetics, Fulgent Genetics 0 15 0 7 0 0 1 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 30 0 6 0 0 2 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 14 0 5 0 0 2 7
Institute of Human Genetics, University of Leipzig Medical Center 0 21 1 4 0 0 1 6
Natera, Inc. 0 16 0 6 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 24 0 5 0 0 1 6
3billion 0 30 1 4 0 0 0 5
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 5 0 0 0 5
OMIM 0 35 1 3 0 0 1 5
Baylor Genetics 0 23 1 3 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 3 1 2 0 0 1 4
Counsyl 0 6 0 2 0 0 2 4
Institute of Human Genetics Munich, TUM University Hospital 0 16 0 4 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 5 0 4 0 0 0 4
Revvity Omics, Revvity 0 6 0 4 0 0 0 4
All of Us Research Program, National Institutes of Health 0 3 0 2 0 0 1 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 7 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 1 1 1 0 0 3
Institute of Immunology and Genetics Kaiserslautern 0 5 1 2 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 3 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 15 0 3 0 0 0 3
MGZ Medical Genetics Center 0 10 0 2 0 0 1 3
Myriad Genetics, Inc. 0 5 0 2 1 0 0 3
Solve-RD Consortium 0 0 0 3 0 0 0 3
Blueprint Genetics 0 2 0 2 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 7 0 1 0 0 1 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 4 0 1 0 0 1 2
Clinical Genomics Laboratory, Stanford Medicine 0 2 0 1 0 0 1 2
Department of Molecular Genetics, Istishari Arab Hospital 0 0 0 1 0 0 1 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 2 0 1 0 0 1 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 2 0 0 0 2
GeneDx 0 5 0 1 0 0 1 2
Genome-Nilou Lab 0 18 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 5 0 2 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 3 0 2 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 10 0 2 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 3 0 2 0 0 0 2
Mendelics 0 5 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 6 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 2 0 0 0 2
Variantyx, Inc. 0 11 1 1 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 3 0 1 0 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 1 0 0 0 1
Arcensus 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 1 1
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 4 0 0 1 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 3 0 1 0 0 0 1
Centre for Human Genetics, University of Kinshasa 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 7 0 1 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 0 0 1 0 0 0 1
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 0 1 0 1 0 0 0 1
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 1 0 0 0 1
Dan Cohn Lab, University Of California Los Angeles 0 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 3 0 1 0 0 0 1
Department of Pediatric Genetics, Istanbul University - Cerrahpasa 0 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 6 0 1 0 0 0 1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 0 2 0 1 0 0 0 1
Familial Cancer Clinic, Veneto Institute of Oncology 0 0 0 1 0 0 0 1
Genatak 0 0 0 1 0 0 0 1
Genetic Foundation of Khorasan Razavi (GFKR) 0 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 5 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 6 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 2 0 0 0 0 1 1
Gharavi Laboratory, Columbia University 0 0 0 1 0 0 0 1
Godley laboratory, The University of Chicago 0 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 4 0 1 0 0 0 1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 0 0 0 0 0 1 1
Inheritance Genetic Center 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 0 1 0 0 0 1
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland 0 2 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 4 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 6 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 1 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 4 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 3 1 0 0 0 0 1
Molecular Otolaryngology and Renal Research Laboratories, University of Iowa Hospital and Clinics 0 0 0 1 0 0 0 1
Next Generation Genetic Polyclinic 0 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 4 0 1 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 0 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 0 0 0 1 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 1 0 0 0 1
Sema4, Sema4 0 0 0 0 0 0 1 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 0 0 1 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 0 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 2 0 1 0 0 0 1
Suma Genomics 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 1 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 89
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.73+9277T>C rs2435357 0.79636
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00944
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782 0.00771
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln) rs141893504 0.00419
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00037
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) rs570277510 0.00027
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001384474.1(LOXHD1):c.3061+1G>A rs537227442 0.00006
NM_016239.4(MYO15A):c.6046+1G>A rs201978571 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00004
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) rs1031268531 0.00004
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr) rs201720797 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336 0.00001
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00001
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr) rs121909272 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) rs61753229 0.00001
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_014915.3(ANKRD26):c.-126T>C rs1589393792 0.00001
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser) rs771251344 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val) rs397517925 0.00001
NC_000015.10:g.43600609_43600610delinsAG rs727503441
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000138.5(FBN1):c.2563C>T (p.Gln855Ter) rs1057519502
NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn) rs1555394999
NM_000173.7(GP1BA):c.104del (p.Lys35fs) rs1555549041
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs) rs1553192715
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter) rs121912571
NM_001002295.2(GATA3):c.431del (p.Gly144fs) rs1588377948
NM_001029896.2(WDR45):c.974-1G>A rs1557083830
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_001042492.3(NF1):c.3250C>A (p.Pro1084Thr) rs1555614848
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His) rs1555618518
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly) rs200697179
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs) rs1349668884
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter) rs779508996
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr) rs61130669
NM_002641.4(PIGA):c.1183G>A (p.Glu395Lys) rs1060499666
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu) rs587776446
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_003036.4(SKI):c.539C>A (p.Thr180Lys) rs863223722
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs) rs775364547
NM_003718.5(CDK13):c.2252G>A (p.Arg751Gln) rs1057519634
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005902.4(SMAD3):c.3G>A (p.Met1Ile) rs2140188685
NM_005908.4(MANBA):c.692G>A (p.Trp231Ter) rs1732439983
NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser) rs104894478
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006306.4(SMC1A):c.124A>G (p.Met42Val) rs1556891104
NM_017775.4(TTC19):c.554T>C (p.Leu185Pro) rs1187416161
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_030787.4(CFHR5):c.678del (p.Glu226fs) rs368209619
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg) rs754223700
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln) rs587783978
NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn) rs1555563717

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