ClinVar Miner

Variants from Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine with conflicting interpretations

Location: France  Primary collection method: clinical testing
Minimum review status of the submission from Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine: Collection method of the submission from Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine:
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
738 87 1 62 18 1 34 103

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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine pathogenic likely pathogenic uncertain significance likely benign benign drug response
pathogenic 1 30 5 0 0 1
likely pathogenic 32 0 17 0 0 0
uncertain significance 8 5 0 3 2 0
likely benign 1 0 14 0 0 0

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
Labcorp Genetics (formerly Invitae), Labcorp 0 23 0 7 8 0 13 28
GeneDx 0 30 0 7 5 0 4 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 17 0 10 0 0 0 10
CeGaT Center for Human Genetics Tuebingen 0 10 0 4 1 0 3 8
OMIM 0 34 1 7 0 0 0 8
Baylor Genetics 0 18 0 6 0 0 0 6
3billion 0 20 0 4 0 0 1 5
Institute of Human Genetics, University of Leipzig Medical Center 0 15 0 3 0 0 2 5
PreventionGenetics, part of Exact Sciences 0 6 0 0 4 0 1 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 5 0 2 1 0 1 4
Revvity Omics, Revvity 0 6 0 3 1 0 0 4
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 4 0 3 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 3 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 10 0 2 0 0 1 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 2 0 1 0 0 1 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 0 0 1 0 1 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 6 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 4 0 1 0 0 1 2
Genetic Services Laboratory, University of Chicago 0 6 0 0 1 0 1 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 4 0 1 0 0 1 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 9 0 1 0 0 1 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 5 0 2 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 0 8 0 2 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 7 0 1 0 0 1 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 2 0 1 0 0 1 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 8 0 1 0 0 1 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 4 0 1 0 0 1 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 3 0 1 0 0 1 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 2 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 2 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 1 0 0 0 1
Ambry Genetics 0 0 0 0 1 0 0 1
Arnesen Lab, University of Bergen 0 0 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 2 0 0 1 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 0 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 3 0 1 0 0 0 1
ClinPGx 0 0 0 0 0 1 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 1 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 0 0 0 1 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 0 0 0 0 0 1 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 1
Genome-Nilou Lab 0 3 0 1 0 0 0 1
GenomeConnect - Simons Searchlight 0 2 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 2 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 0 1 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 1 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1 1
Mendelics 0 2 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 0 1 0 0 0 1
Natera, Inc. 0 0 0 0 0 0 1 1
New York Genome Center 0 1 0 0 1 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 2 0 1 0 0 0 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 1 0 0 0 1
Variantyx, Inc. 0 8 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 2 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 103
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004608.4(TBX6):c.484G>A (p.Gly162Ser) rs56098093 0.00404
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu) rs150801382 0.00204
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00147
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00076
NM_004608.4(TBX6):c.815G>A (p.Arg272Gln) rs201231713 0.00076
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00057
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro) rs200530055 0.00029
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00016
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met) rs191563592 0.00007
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_005908.4(MANBA):c.1922G>A (p.Arg641His) rs569997475 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00005
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_058179.4(PSAT1):c.725C>T (p.Thr242Met) rs149101687 0.00005
NM_006180.6(NTRK2):c.2374C>T (p.Arg792Cys) rs201902834 0.00004
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro) rs199628364 0.00004
NM_016955.4(SEPSECS):c.114+3A>G rs748528138 0.00004
NM_001377.3(DYNC2H1):c.9565C>T (p.Gln3189Ter) rs373924400 0.00003
NM_002354.3(EPCAM):c.556-14A>G rs376155665 0.00003
NM_194292.3(SASS6):c.127-13A>G rs1406541512 0.00003
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007 0.00002
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100 0.00001
NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn) rs765199264 0.00001
NM_001256012.3(MYH10):c.5681G>A (p.Arg1894Gln) rs1038557470 0.00001
NM_001371928.1(AHDC1):c.1003G>A (p.Asp335Asn) rs1202158646 0.00001
NM_001375524.1(TRRAP):c.4079C>T (p.Pro1360Leu) rs139426093 0.00001
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe) rs754043007 0.00001
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_006494.4(ERF):c.247C>T (p.Arg83Trp) rs766762597 0.00001
NM_152594.3(SPRED1):c.33-1G>A rs1895105626 0.00001
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln) rs2101996488
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr) rs587776937
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001005273.3(CHD3):c.4024C>T (p.Arg1342Trp) rs2151615708
NM_001029896.2(WDR45):c.827+2dup rs1602537729
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001040142.2(SCN2A):c.1136G>A (p.Arg379His) rs2105255398
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln) rs1057520844
NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg) rs1688108689
NM_001172509.2(SATB2):c.597+1G>A rs1559016679
NM_001190274.2(FBXO11):c.147_182dup (p.Gln50_Pro61dup) rs1478658114
NM_001271.4(CHD2):c.3637T>C (p.Ser1213Pro) rs2505589793
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His) rs867543866
NM_001292034.3(TAB2):c.1764+1G>A rs1782223593
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg) rs1275489527
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu) rs2032214426
NM_001349338.3(FOXP1):c.1544A>G (p.His515Arg) rs2036511353
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs) rs1794584714
NM_001375524.1(TRRAP):c.5596C>T (p.Arg1866Cys) rs1791432323
NM_001376.5(DYNC1H1):c.2971A>G (p.Met991Val) rs1057518524
NM_001379403.1(WDR26):c.823-10A>G rs1674395504
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_001970.5(EIF5A):c.325C>T (p.Arg109Ter) rs2143009613
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003073.5(SMARCB1):c.214dup (p.Thr72fs) rs2517660810
NM_003106.4(SOX2):c.368A>G (p.Asp123Gly) rs1249553271
NM_003482.4(KMT2D):c.12688C>T (p.Gln4230Ter) rs793888511
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) rs1057524031
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004380.3(CREBBP):c.5518G>T (p.Val1840Leu) rs2051853150
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu) rs1555606635
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys) rs137853049
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) rs121434226
NM_006180.6(NTRK2):c.370C>T (p.Arg124Ter) rs1229434307
NM_006236.3(POU3F3):c.1303_1305del (p.Glu435del) rs2466876904
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_006922.4(SCN3A):c.5090A>G (p.Asn1697Ser) rs1685074140
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys) rs1591833159
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp) rs1554065887
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys) rs2045826576
NM_007327.4(GRIN1):c.2500G>C (p.Glu834Gln) rs1588735834
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012428.4(NPTN):c.14C>A (p.Ser5Ter) rs1449689929
NM_014423.4(AFF4):c.758C>T (p.Pro253Leu) rs2532575070
NM_014712.3(SETD1A):c.2843G>A (p.Arg948Gln) rs149618545
NM_015001.3(SPEN):c.2417_2418dup (p.Arg807fs) rs764595221
NM_015215.4(CAMTA1):c.122A>G (p.His41Arg) rs1646960047
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_016604.4(KDM3B):c.3871T>C (p.Ser1291Pro) rs2126994153
NM_016628.5(WAC):c.381+4_381+7del rs1564400647
NM_020338.4(ZMIZ1):c.253C>T (p.Arg85Ter) rs1039220588
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter) rs761820222
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu) rs1590017652
NM_022455.5(NSD1):c.4378+3_4378+6del rs1562251194
NM_022835.3(PLEKHG2):c.3257A>G (p.Asp1086Gly) rs775055611
NM_030665.4(RAI1):c.176A>G (p.Tyr59Cys) rs1240460489
NM_052867.4(NALCN):c.3959C>T (p.Thr1320Met) rs2033130135
NM_057175.5(NAA15):c.231dup (p.Lys78fs) rs757423402
NM_078480.3(PUF60):c.1673_1674del (p.Ser558fs) rs1816304706
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs) rs587784527
NM_133433.4(NIPBL):c.-467C>T rs1251456909
NM_138459.5(NUS1):c.328C>T (p.Gln110Ter) rs2481983720
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_197968.4(ZMYM2):c.2528_2529del (p.Lys843fs) rs2140727029

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