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:
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
236 108 0 53 2 2 20 73

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 established risk allele
pathogenic 0 32 5 0 0 0
likely pathogenic 21 0 9 0 0 0
uncertain significance 3 4 0 2 2 0
risk factor 1 1 1 0 1 1

Submitter to submitter summary #

Total submitters: 80
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 44 0 10 1 1 7 19
OMIM 0 36 0 3 0 1 1 5
Counsyl 0 7 0 3 0 0 2 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 12 0 5 0 0 0 5
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 5 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 14 0 3 0 1 1 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 6 0 3 0 0 2 5
Baylor Genetics 0 21 0 3 0 1 0 4
Fulgent Genetics, Fulgent Genetics 0 10 0 4 0 0 0 4
Revvity Omics, Revvity 0 4 0 3 0 0 0 3
MGZ Medical Genetics Center 0 10 0 2 0 0 1 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 12 0 3 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 2 0 1 0 3
3billion 0 21 0 2 0 1 0 3
All of Us Research Program, National Institutes of Health 0 3 0 2 0 0 1 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 4 0 1 0 1 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 7 0 1 0 0 1 2
GeneDx 0 6 0 0 1 1 0 2
PreventionGenetics, part of Exact Sciences 0 0 0 0 2 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 2 0 0 0 2
Mendelics 0 4 0 1 0 1 0 2
Blueprint Genetics 0 2 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 14 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 2 0 1 0 0 1 2
CeGaT Center for Human Genetics Tuebingen 0 3 0 0 2 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 5 0 1 0 1 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 3 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 9 0 1 0 1 0 2
Molecular Otolaryngology and Renal Research Laboratories, University of Iowa Hospital and Clinics 0 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 5 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 6 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 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
Natera, Inc. 0 9 0 1 0 0 0 1
Sema4, Sema4 0 0 0 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 3 0 0 1 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 4 0 1 0 0 0 1
Familial Cancer Clinic, Veneto Institute of Oncology 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1 0 1
CSER _CC_NCGL, University of Washington 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
Centre of Medical Genetics, University of Antwerp 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 4 0 0 0 1 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 1 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 7 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 6 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 7 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 0 0 1 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 0 1 0 1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 0 0 0 0 0 1 1
Dan Cohn Lab, University Of California Los Angeles 0 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 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
Genatak 0 0 0 1 0 0 0 1
Myriad Genetics, Inc. 0 5 0 1 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 2 0 0 0 1 0 1
Godley laboratory, The University of Chicago 0 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 4 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 1 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 1 0 0 0 1
Suma Genomics 0 0 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 4 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 3 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 0 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
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 1 0 0 0 1
Arcensus 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
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 73
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 0.00966
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782 0.00771
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln) rs141893504 0.00428
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp) rs146546544 0.00010
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_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
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_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
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr) rs121909272 0.00002
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_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 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_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_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000091.5(COL4A3):c.2657-1G>T rs373324875
NM_000138.5(FBN1):c.2563C>T (p.Gln855Ter) rs1057519502
NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn) rs1555394999
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_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_002641.4(PIGA):c.1183G>A (p.Glu395Lys) rs1060499666
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_003718.5(CDK13):c.2252G>A (p.Arg751Gln) rs1057519634
NM_005902.4(SMAD3):c.3G>A (p.Met1Ile) rs2140188685
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.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_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs) rs1554216571
NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn) rs1555563717
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe) rs727503441

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