ClinVar Miner

Variants from U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille with conflicting interpretations

Location: France — Primary collection method: clinical testing
Minimum review status of the submission from U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille: Collection method of the submission from U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille:
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
53 74 0 198 3 0 70 219

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
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 181 37 18 5
likely pathogenic 14 0 15 15 7
likely benign 0 2 3 0 3

Submitter to submitter summary #

Total submitters: 37
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
LDLR-LOVD, British Heart Foundation 0 91 0 146 0 0 28 174
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 76 0 84 0 0 22 106
Robarts Research Institute,Western University 0 8 0 65 0 0 4 69
Fundacion Hipercolesterolemia Familiar 0 37 0 30 1 0 17 48
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 16 0 33 0 0 4 37
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 26 0 14 1 0 16 31
Color 0 24 0 15 0 0 15 30
Invitae 0 58 0 15 0 0 14 29
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 31 0 17 0 0 9 26
Iberoamerican FH Network 0 17 0 14 0 0 11 25
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 119 0 13 0 0 9 22
CSER_CC_NCGL; University of Washington Medical Center 0 2 0 4 1 0 12 17
Integrated Genetics/Laboratory Corporation of America 0 37 0 2 0 0 12 14
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 17 0 4 1 0 6 11
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 7 0 9 0 0 0 9
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 6 0 0 3 9
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 2 0 1 1 0 6 8
GeneDx 0 23 0 3 0 0 3 6
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 50 0 5 0 0 0 5
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 9 0 4 0 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 0 0 1 0 2 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 9 0 2 0 0 1 3
Athena Diagnostics Inc 0 2 0 2 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 3 0 2 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 2 0 0 0 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 0 0 1 0 0 0 1
Ambry Genetics 0 0 0 1 0 0 0 1
PreventionGenetics 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 1 0 0 0 0 1 1
SNPedia 0 4 0 1 0 0 0 1
Blueprint Genetics, 0 3 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 4 0 0 0 0 1 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 1 0 1 0 0 0 1
Phosphorus, Inc. 0 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 219
Download table as spreadsheet
HGVS dbSNP
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.-188C>T rs878854023
NM_000527.4(LDLR):c.-97G>A rs944580031
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.1007A>G (p.Tyr336Cys) rs879254750
NM_000527.4(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1028G>A (p.Gly343Asp) rs879254760
NM_000527.4(LDLR):c.1056_1060+3delCGAAGGTG rs879254770
NM_000527.4(LDLR):c.1061-1G>A rs879254774
NM_000527.4(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.4(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.4(LDLR):c.1103G>A (p.Cys368Tyr) rs768430352
NM_000527.4(LDLR):c.1118G>A (p.Gly373Asp) rs879254797
NM_000527.4(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.4(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.4(LDLR):c.1167G>A (p.Thr389=) rs139066906
NM_000527.4(LDLR):c.1174T>C (p.Cys392Arg) rs879254814
NM_000527.4(LDLR):c.1175G>A (p.Cys392Tyr) rs1060500986
NM_000527.4(LDLR):c.1176C>A (p.Cys392Ter) rs750649426
NM_000527.4(LDLR):c.1186+5G>A rs879254821
NM_000527.4(LDLR):c.1187-10G>A rs765696008
NM_000527.4(LDLR):c.1187-1G>A rs879254824
NM_000527.4(LDLR):c.1194C>T (p.Ile398=) rs13306498
NM_000527.4(LDLR):c.1215C>G (p.Asn405Lys) rs879254837
NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) rs121908043
NM_000527.4(LDLR):c.1217G>A (p.Arg406Gln) rs552422789
NM_000527.4(LDLR):c.1221C>T (p.His407=) rs778424518
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1243G>C (p.Asp415His) rs879254844
NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1277T>C (p.Leu426Pro) rs879254851
NM_000527.4(LDLR):c.1285G>A (p.Val429Met) rs28942078
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.4(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.4(LDLR):c.1323C>G (p.Ile441Met) rs5933
NM_000527.4(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.4(LDLR):c.1329G>C (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.1358+1G>A rs775924858
NM_000527.4(LDLR):c.1359-1G>A rs139617694
NM_000527.4(LDLR):c.136T>G (p.Cys46Gly) rs879254415
NM_000527.4(LDLR):c.1412G>A (p.Arg471Lys) rs1131692207
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1463T>A (p.Ile488Asn) rs879254913
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1478_1479delCT (p.Ser493Cysfs) rs869025453
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.4(LDLR):c.1502C>T (p.Ala501Val) rs755667663
NM_000527.4(LDLR):c.1503G>A (p.Ala501=) rs368889457
NM_000527.4(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.4(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.4(LDLR):c.1558A>G (p.Arg520Gly) rs879254939
NM_000527.4(LDLR):c.155G>A (p.Cys52Tyr) rs879254418
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.4(LDLR):c.1586+2T>C rs879254945
NM_000527.4(LDLR):c.1586+5G>A rs781362878
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1625T>G (p.Ile542Ser) rs879254962
NM_000527.4(LDLR):c.1629_1652del (p.Lys543_Asp551delinsAsn) rs879254963
NM_000527.4(LDLR):c.1633G>A (p.Gly545Arg) rs879254965
NM_000527.4(LDLR):c.1637G>A (p.Gly546Asp) rs28942081
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.166T>C (p.Ser56Pro) rs878854026
NM_000527.4(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.4(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.4(LDLR):c.1694G>C (p.Gly565Ala) rs28942082
NM_000527.4(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.4(LDLR):c.1703T>C (p.Leu568Pro) rs879254991
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.4(LDLR):c.1730G>C (p.Trp577Ser) rs138947766
NM_000527.4(LDLR):c.1735G>T (p.Asp579Tyr) rs875989929
NM_000527.4(LDLR):c.1744C>T (p.Leu582Phe) rs1131692216
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1774G>A (p.Gly592Arg) rs763147599
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.4(LDLR):c.1814T>C (p.Leu605Pro) rs875989932
NM_000527.4(LDLR):c.1829C>T (p.Ser610Phe) rs879255038
NM_000527.4(LDLR):c.1829_1831del (p.Ser610del) rs879255037
NM_000527.4(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1845+1G>A rs879255049
NM_000527.4(LDLR):c.1846-1G>A rs879255051
NM_000527.4(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.4(LDLR):c.1856T>C (p.Phe619Ser) rs879255054
NM_000527.4(LDLR):c.1856T>G (p.Phe619Cys) rs879255054
NM_000527.4(LDLR):c.1862C>G (p.Thr621Arg) rs879255058
NM_000527.4(LDLR):c.1871_1873del (p.Ile624del) rs879255062
NM_000527.4(LDLR):c.1876G>A (p.Glu626Lys) rs139791325
NM_000527.4(LDLR):c.1880C>A (p.Ala627Asp) rs875989934
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.4(LDLR):c.190+5G>A rs1131692190
NM_000527.4(LDLR):c.1907G>A (p.Gly636Asp) rs879255072
NM_000527.4(LDLR):c.191-1G>A rs879254433
NM_000527.4(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.4(LDLR):c.1958T>G (p.Val653Gly) rs879255086
NM_000527.4(LDLR):c.1965C>G (p.Phe655Leu) rs879255090
NM_000527.4(LDLR):c.1975A>C (p.Thr659Pro) rs773693079
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2001T>G (p.Cys667Trp) rs879255109
NM_000527.4(LDLR):c.2042G>A (p.Cys681Tyr) rs201637900
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2087G>A (p.Cys696Tyr) rs879255134
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.2140G>T (p.Glu714Ter) rs869320652
NM_000527.4(LDLR):c.2167G>T (p.E723*) rs1057516127
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2311+1G>T rs879255175
NM_000527.4(LDLR):c.2311+2T>G rs879255176
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.4(LDLR):c.2390-1G>C rs879255193
NM_000527.4(LDLR):c.2397_2405delCGTCTTCCT (p.Val800_Leu802del) rs875989944
NM_000527.4(LDLR):c.2416dupG (p.Val806Glyfs) rs773618064
NM_000527.4(LDLR):c.2441G>A (p.Arg814Gln) rs5928
NM_000527.4(LDLR):c.245G>A (p.Cys82Tyr) rs879254448
NM_000527.4(LDLR):c.2475C>A (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.2476C>A (p.Pro826Thr) rs879255217
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.4(LDLR):c.270T>A (p.Asp90Glu) rs372828849
NM_000527.4(LDLR):c.28T>C (p.Trp10Arg) rs879254386
NM_000527.4(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+2T>A rs793888517
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.313+2dupT rs875989897
NM_000527.4(LDLR):c.325T>C (p.Cys109Arg) rs140807148
NM_000527.4(LDLR):c.326G>T (p.Cys109Phe) rs121908042
NM_000527.4(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.4(LDLR):c.343C>T (p.Arg115Cys) rs774723292
NM_000527.4(LDLR):c.361T>C (p.Cys121Arg) rs879254492
NM_000527.4(LDLR):c.377T>C (p.Phe126Ser) rs879254502
NM_000527.4(LDLR):c.382T>C (p.Cys128Arg) rs879254505
NM_000527.4(LDLR):c.383G>A (p.Cys128Tyr) rs879254506
NM_000527.4(LDLR):c.416A>G (p.Asp139Gly) rs879254518
NM_000527.4(LDLR):c.416A>T (p.Asp139Val) rs879254518
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.4(LDLR):c.428G>C (p.Cys143Ser) rs879254522
NM_000527.4(LDLR):c.442T>C (p.Cys148Arg) rs879254525
NM_000527.4(LDLR):c.443G>C (p.Cys148Ser) rs879254526
NM_000527.4(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.4(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.4(LDLR):c.478T>C (p.Cys160Arg) rs879254540
NM_000527.4(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.4(LDLR):c.501C>G (p.Cys167Trp) rs752596535
NM_000527.4(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.4(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.4(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.532G>C (p.Asp178His) rs879254565
NM_000527.4(LDLR):c.533A>G (p.Asp178Gly) rs875989902
NM_000527.4(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.4(LDLR):c.539G>A (p.Trp180Ter) rs879254569
NM_000527.4(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr) rs121908039
NM_000527.4(LDLR):c.551G>C (p.Cys184Ser) rs121908039
NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.4(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.4(LDLR):c.626G>A (p.Cys209Tyr) rs879254600
NM_000527.4(LDLR):c.648dupT (p.Asp217Terfs) rs875989903
NM_000527.4(LDLR):c.654_656delTGG (p.Gly219del) rs121908027
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.664T>C (p.Cys222Arg) rs577934998
NM_000527.4(LDLR):c.67+2T>A rs879254394
NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.4(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.682G>C (p.Glu228Gln) rs121908029
NM_000527.4(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000527.4(LDLR):c.683A>G (p.Glu228Gly) rs879254642
NM_000527.4(LDLR):c.693C>A (p.Cys231Ter) rs121908035
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.743G>T (p.Cys248Phe) rs879254663
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.4(LDLR):c.767A>G (p.Asp256Gly) rs879254670
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.818-1G>A rs879254688
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.82G>A (p.Glu28Lys) rs551747280
NM_000527.4(LDLR):c.846C>A (p.Phe282Leu) rs730882090
NM_000527.4(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.4(LDLR):c.859G>T (p.Gly287Cys) rs375495026
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.898A>G (p.Arg300Gly) rs767618089
NM_000527.4(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000527.4(LDLR):c.910G>T (p.Asp304Tyr) rs121908030
NM_000527.4(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.4(LDLR):c.914G>C (p.Trp305Ser) rs879254717
NM_000527.4(LDLR):c.921T>G (p.Asp307Glu) rs879254720
NM_000527.4(LDLR):c.940+1G>C rs879254729
NM_000527.4(LDLR):c.940+2T>A rs875989912
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000527.4(LDLR):c.949G>A (p.Glu317Lys) rs746834464
NM_000527.4(LDLR):c.964_966delAAC (p.Asn322del) rs879254741
NM_000527.4(LDLR):c.965A>T (p.Asn322Ile) rs879254742
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.4(LDLR):c.985T>G (p.Cys329Gly) rs879254749
NM_001195799.1(LDLR):c.191-2433_191-2432insG rs879254466

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