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
172 72 6 38 2 4 23 65

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 drug response risk factor
pathogenic 6 25 7 0 0 0 1
likely pathogenic 13 0 8 0 0 0 0
uncertain significance 4 6 0 2 1 1 0
risk factor 1 1 1 1 1 0 0

Submitter to submitter summary #

Total submitters: 45
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 55 0 11 2 2 6 21
Invitae 0 49 0 7 2 1 1 11
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 23 0 5 0 0 3 8
Ambry Genetics 0 33 0 3 0 0 3 6
Counsyl 0 5 0 4 0 0 2 6
Integrated Genetics/Laboratory Corporation of America 0 16 0 4 0 1 1 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 19 0 3 1 0 2 6
OMIM 0 31 0 2 0 2 1 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 14 0 2 0 1 2 5
GeneReviews 0 5 4 0 0 0 1 5
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 6 0 3 0 0 1 4
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 0 0 4 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 0 4 0 0 0 4
Fulgent Genetics 0 15 0 3 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 2 3
SIB Swiss Institute of Bioinformatics 0 1 0 2 0 0 1 3
Athena Diagnostics Inc 0 12 0 2 0 0 0 2
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
Blueprint Genetics, 0 10 0 2 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 4 0 0 1 1 0 2
UCLA Clinical Genomics Center, UCLA 0 1 0 1 0 1 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 4 0 0 0 1 1 2
ARUP Institute,ARUP Laboratories 0 1 2 0 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 4 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 7 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 1 0 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 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 2 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 1 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 3 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 0 0 0 1 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 0 0 0 1 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 1 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 5 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 65
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_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_000158.3(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_2865delCT (p.Pro955Argfs) 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_000267.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_000339.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781
NM_000430.3(PAFAH1B1):c.162dupA (p.Trp55Metfs) rs113994198
NM_000432.3(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000444.5(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000495.4(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_000495.4(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_000806.5(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_000833.4(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_000901.4(NR3C2):c.2017C>T (p.Arg673Ter) rs121912571
NM_001035.2(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001080116.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335
NM_001080463.1(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862
NM_001127221.1(CACNA1A):c.1060C>T (p.Leu354Phe) rs1555767914
NM_001163817.1(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001267550.2(TTN):c.77100dupA (p.Pro25701Thrfs) rs794729343
NM_002087.3(GRN):c.708+1G>A rs63749817
NM_002312.3(LIG4):c.2440C>T (p.Arg814Ter) rs104894419
NM_002775.4(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_004369.3(COL6A3):c.5968C>T (p.Arg1990Trp) rs146546544
NM_004518.5(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026
NM_007126.4(VCP):c.572G>A (p.Arg191Gln) rs121909334
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_012330.3(KAT6B):c.5201_5210dupTGCTGCAGCA (p.Gln1737Hisfs) rs199470482
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_013275.5(ANKRD11):c.1903_1907delAAACA (p.Lys635Glnfs) rs886041125
NM_014000.2(VCL):c.2828_2829delCT (p.Pro943Argfs) rs781036800
NM_014191.3(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_015339.4(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_017849.3(TMEM127):c.117_120delGTCT (p.Ile41Argfs) rs121908816
NM_017890.4(VPS13B):c.10156dupA (p.Thr3386Asnfs) rs386834055
NM_020705.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_020975.5(RET):c.73+9277T>C rs2435357
NM_021007.2(SCN2A):c.2960G>T (p.Ser987Ile) rs796053124
NM_022124.5(CDH23):c.6866A>G (p.Asn2289Ser) rs876657756
NM_138694.3(PKHD1):c.10036_10045del10 (p.Cys3346Glnfs) rs1554216571
NM_152263.3(TPM3):c.43G>C (p.Asp15His) rs1553251644
NM_152754.2(SEMA3D):c.1272C>A (p.His424Gln) rs141893504
NM_170707.3(LMNA):c.1129C>T (p.Arg377Cys) rs397517889
NM_181789.3(GLDN):c.1305G>A (p.Trp435Ter) rs775011495

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