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 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
180 82 5 49 5 5 30 80

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 association drug response protective risk factor
pathogenic 5 34 9 1 1 1 1 1 1
likely pathogenic 15 0 11 0 0 0 0 0 0
uncertain significance 4 8 0 4 3 0 1 0 0
risk factor 1 1 1 1 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 91
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 58 0 12 2 2 7 23
Invitae 0 64 0 11 5 2 5 22
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 24 0 5 1 1 4 11
Ambry Genetics 0 34 0 4 0 0 5 9
Counsyl 0 6 0 4 0 0 3 7
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 20 0 4 1 0 3 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 15 0 2 0 1 3 6
Integrated Genetics/Laboratory Corporation of America 0 16 0 4 0 1 1 6
OMIM 0 36 0 2 0 2 1 5
Athena Diagnostics Inc 0 13 0 3 1 0 1 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 3 0 0 2 5
Baylor Genetics 0 7 0 3 0 0 1 4
GeneReviews 0 9 3 0 0 0 1 4
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 7 0 3 0 0 1 4
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 4 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 5 0 4 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 16 0 3 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 2 3
Blueprint Genetics 0 18 0 2 0 1 0 3
Illumina Clinical Services Laboratory,Illumina 0 4 0 0 1 1 1 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 4 0 0 0 1 2 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 6 0 3 0 0 1 3
SIB Swiss Institute of Bioinformatics 0 1 0 2 0 0 1 3
Center for Human Genetics, Inc 0 8 0 1 0 0 1 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 3 0 2 0 0 0 2
Mendelics 0 5 0 1 1 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 1 0 1 0 1 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 2 0 0 1 2
Research and Development, ARUP Laboratories 0 1 2 0 0 0 0 2
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 0 0 2 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 1 0 0 1 2
Broad Institute Rare Disease Group,Broad Institute 0 1 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 5 0 0 0 0 1 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 5 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 7 0 0 1 0 0 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 0 0 1 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 0 0 0 0 0 1 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
Familial Cancer Clinic,Veneto Institute of Oncology 0 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 6 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 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
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
CSER _CC_NCGL, University of Washington 0 1 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 3 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 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
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
Center for Human Genetics,University of Leuven 0 3 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
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 1 0 1 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 0 0 1 1
Department of Obstetrics and Gynecology,Helsinki University Hospital 0 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 0 0 0 1 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 0 0 1 0 0 0 1
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 0 0 0 0 0 1 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
Dan Cohn Lab,University Of California Los Angeles 0 1 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 3 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 4 0 1 0 0 0 1
ClinGen RASopathy Variant Curation Expert Panel 0 3 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
Raymond Lab,University of Cambridge 0 1 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 6 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
Johns Hopkins Genomics,Johns Hopkins University 0 0 0 0 0 0 1 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
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 0 0 1 1
CFTR-France 0 0 0 0 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 80
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.3(ATM):c.6385T>G (p.Tyr2129Asp) rs876658542
NM_000051.3(ATM):c.8560C>T (p.Arg2854Cys) rs201958469
NM_000077.4(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000091.4(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000118.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000267.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_000267.3(NF1):c.4180A>C (p.Asn1394His) rs1555618518
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) rs61753229
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs) rs113994198
NM_000432.3(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000495.5(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_000503.6(EYA1):c.121G>C (p.Glu41Gln) rs561111097
NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter) rs121912571
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile) rs796053124
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001077401.2(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_001080116.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781
NM_001127221.1(CACNA1A):c.1060C>T (p.Leu354Phe) rs1555767914
NM_001127221.1(CACNA1A):c.4999C>T (p.Arg1667Trp) rs121908220
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_001163817.2(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001163817.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001193304.3(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs) rs794729343
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862
NM_002087.3(GRN):c.708+1G>A rs63749817
NM_002312.3(LIG4):c.2440C>T (p.Arg814Ter) rs104894419
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu) rs587776446
NM_002834.4(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs) rs775364547
NM_003373.4(VCL):c.2746-2193_2746-2192del rs781036800
NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser)
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_013275.6(ANKRD11):c.1898_1902AAACA[1] (p.Lys635fs) rs886041125
NM_014915.2(ANKRD26):c.-126T>C
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947
NM_015340.4(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_017890.4(VPS13B):c.10156dup (p.Thr3386fs) rs386834055
NM_020975.6(RET):c.73+9277T>C rs2435357
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) rs876657756
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_057166.5(COL6A3):c.4147C>T (p.Arg1383Trp) rs146546544
NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs) rs1554216571
NM_144612.6(LOXHD1):c.3061+1G>A rs537227442
NM_152263.4(TPM3):c.43G>C (p.Asp15His) rs1553251644
NM_152754.2(SEMA3D):c.1272C>A (p.His424Gln) rs141893504
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter) rs775011495
Single allele

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