ClinVar Miner

Variants from Equipe Genetique des Anomalies du Developpement,Université de Bourgogne with conflicting interpretations

Location: France — Primary collection method: clinical testing
Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement,Université de Bourgogne: Collection method of the submission from Equipe Genetique des Anomalies du Developpement,Université de Bourgogne:
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
159 41 12 58 24 8 51 109

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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne pathogenic likely pathogenic uncertain significance likely benign benign association drug response risk factor other
pathogenic 8 19 5 0 0 0 2 2 0
likely pathogenic 31 1 13 2 1 1 0 1 1
uncertain significance 18 10 3 17 9 0 0 1 0
likely benign 6 1 3 0 5 0 0 1 0
benign 3 0 4 4 0 0 0 2 0

Submitter to submitter summary #

Total submitters: 75
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
OMIM 0 33 0 16 2 7 19 40
Invitae 0 42 0 11 13 1 11 36
GeneDx 0 49 0 14 9 1 10 34
Ambry Genetics 0 32 0 10 9 0 9 28
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 27 0 9 4 1 2 16
Biesecker Lab/Human Development Section,National Institutes of Health 0 7 3 1 9 0 2 15
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 22 0 5 8 0 2 15
Illumina Clinical Services Laboratory,Illumina 0 9 0 6 6 0 3 15
GeneReviews 0 6 8 4 0 0 1 13
Integrated Genetics/Laboratory Corporation of America 0 17 0 4 7 0 1 12
Color 0 9 0 2 6 0 4 12
CSER_CC_NCGL; University of Washington Medical Center 0 11 0 1 4 0 3 8
Counsyl 0 17 0 4 2 0 1 7
Genetic Services Laboratory, University of Chicago 0 8 0 3 2 0 1 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 13 0 1 5 0 0 6
Blueprint Genetics, 0 6 0 1 4 0 1 6
PreventionGenetics 0 4 0 0 5 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 13 0 3 2 0 0 5
Fulgent Genetics 0 17 0 3 0 0 1 4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 4 0 1 2 0 1 4
Athena Diagnostics Inc 0 5 0 3 0 0 0 3
Mendelics 0 10 0 1 1 0 1 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 2 0 0 0 3
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 3 0 2 0 1 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 0 1 0 0 2 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 2 3
Baylor Miraca Genetics Laboratories, 0 7 0 2 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 8 0 0 2 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 8 0 2 0 0 0 2
PharmGKB 0 0 0 0 0 2 0 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 6 0 0 1 0 1 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 3 0 2 0 0 0 2
Vantari Genetics 0 0 0 2 0 0 0 2
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 1 2
ARUP Institute,ARUP Laboratories 0 1 0 0 1 0 1 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 3 0 0 0 0 1 1
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 6 0 0 1 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 2 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 2 0 1 0 0 0 1
Sharing Clinical Reports Project (SCRP) 0 4 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 4 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 0 0 0 1 1
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 0 0 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA2) 0 3 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 4 0 1 0 0 0 1
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 0 0 0 0 0 0 1 1
CHU Sainte-Justine Research Center,University of Montreal 0 0 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 2 0 1 0 0 0 1
GeneKor MSA 0 2 0 0 0 1 0 1
HudsonAlpha Institute for Biotechnology 0 6 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 0 1 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 1 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 0 0 0 0 1 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 4 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 305 3 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Medical & Molecular Genetics Group,University of Lincoln 0 0 0 0 0 0 1 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 0 0 1 0 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 3 0 1 0 0 0 1
True Health Diagnostics 0 1 0 0 0 1 0 1
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 2 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 3 0 1 0 0 0 1
Tampere Brain Tumor Research Consortium,University of Tampere 0 0 0 0 0 0 1 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 0 0 0 1 1
ClinGen PAH Variant Curation Expert Panel, 0 1 0 1 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 0 0 0 1 1
Gharavi Laboratory,Columbia University 0 2 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine,University of Washington 0 3 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 109
Download table as spreadsheet
HGVS dbSNP
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000059.3(BRCA2):c.5616_5620delAGTAA (p.Lys1872Asnfs) rs80359525
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000069.2(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000161.2(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000202.5(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322
NM_000218.2(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
NM_000257.3(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000313.3(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000337.5(SGCD):c.4-1G>A rs1554094927
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249
NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000432.3(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000489.4(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000500.7(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000528.3(MAN2B1):c.2402dupG (p.Ser802Glnfs) rs797044680
NM_000535.6(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_001040108.1(MLH3):c.2793_2794delGA (p.Asn932Trpfs) rs754716792
NM_001042472.2(ABHD12):c.874C>T (p.Arg292Ter) rs776800006
NM_001100913.2(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001165963.2(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001193416.2(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001244008.1(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_001383.4(DPH1):c.374T>C (p.Leu125Pro) rs200530055
NM_001848.2(COL6A1):c.717+4A>G rs762867111
NM_001943.4(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.4(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_002834.4(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_003000.2(SDHB):c.423+20T>A rs190139590
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_003036.3(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003165.3(STXBP1):c.325+2_325+3del rs1554776853
NM_003494.3(DYSF):c.6124C>T (p.Arg2042Cys) rs121908955
NM_003611.2(OFD1):c.312+1delG rs312262822
NM_004415.2(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004572.3(PKP2):c.1643delG (p.Gly548Valfs) rs794729137
NM_004586.2(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628
NM_004615.3(TSPAN7):c.515C>A (p.Pro172His) rs104894951
NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_005249.4(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005654.5(NR2F1):c.425G>A (p.Arg142His) rs1554074684
NM_005862.2(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005862.2(STAG1):c.1433A>C (p.His478Pro) rs1553722309
NM_005862.2(STAG1):c.1460_1464dup (p.Trp489Valfs) rs1553722294
NM_005862.2(STAG1):c.1736dup (p.Ser580Valfs) rs1553718528
NM_005862.2(STAG1):c.646A>G (p.Arg216Gly) rs1553738686
NM_005862.2(STAG1):c.659A>G (p.His220Arg) rs1057519153
NM_006005.3(WFS1):c.2425G>A (p.Glu809Lys) rs71539673
NM_006147.3(IRF6):c.25C>T (p.Arg9Trp) rs1553248641
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006593.2(TBR1):c.1118A>G (p.Gln373Arg) rs1553510492
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532Argfs) rs869312704
NM_006662.2(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006940.4(SOX5):c.637C>T (p.Arg213Ter) rs767241917
NM_015141.3(GPD1L):c.370A>G (p.Ile124Val) rs72552293
NM_015338.5(ASXL1):c.1934dup (p.Gly646Trpfs) rs750318549
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.916_917delGA (p.Asp306Tyrfs) rs386834117
NM_018026.3(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020630.5(RET):c.874G>A (p.Val292Met) rs34682185
NM_020928.1(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020975.4(RET):c.341G>A (p.Arg114His) rs76397662
NM_021007.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_021815.4(SLC5A7):c.123_126delCATC (p.Ile42Terfs) rs886039767
NM_022912.2(REEP1):c.512delC (p.Pro171Hisfs) rs387906263
NM_024665.5(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_025137.3(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_033337.2(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_033629.4(TREX1):c.397delC (p.Leu133Cysfs) rs78762691
NM_078480.2(PUF60):c.1381-2A>G rs1057518681
NM_133499.2(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_144997.5(FLCN):c.1285dupC (p.His429Profs) rs80338682
NM_144997.5(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_152743.3(BRAT1):c.803G>A (p.Arg268His) rs1131691679
NM_170707.3(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.3(LMNA):c.976T>A (p.Ser326Thr) rs56851164
NM_172107.3(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.3(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) rs74315448
NM_177559.2(CSNK2A1):c.140G>A (p.Arg47Gln) rs869312845
NM_194318.3(B3GLCT):c.660+1G>A rs80338851
NM_198056.2(SCN5A):c.1604G>A (p.Arg535Gln) rs199473121
NM_198056.2(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198056.2(SCN5A):c.3784G>A (p.Gly1262Ser) rs137854616
NM_198897.1(FIBP):c.673C>T (p.Gln225Ter) rs786204849

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