ClinVar Miner

Variants from Fundacion Hipercolesterolemia Familiar with conflicting interpretations

Location: Spain — Primary collection method: research
Minimum review status of the submission from Fundacion Hipercolesterolemia Familiar: Collection method of the submission from Fundacion Hipercolesterolemia Familiar:
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
59 87 0 103 27 1 93 188

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
Fundacion Hipercolesterolemia Familiar pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 0 46 4 2 0 0
likely pathogenic 48 0 6 6 0 0
uncertain significance 45 49 0 20 13 0
likely benign 1 2 3 0 5 0
benign 2 2 3 4 0 1

Submitter to submitter summary #

Total submitters: 35
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 0 142 0 35 14 0 50 99
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 47 0 39 7 0 34 80
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 37 0 30 1 0 17 48
Invitae 0 37 0 18 10 0 16 44
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 56 0 21 3 0 20 44
Robarts Research Institute,Western University 0 23 0 26 6 0 8 40
Integrated Genetics/Laboratory Corporation of America 0 13 0 14 6 0 11 31
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 22 0 16 0 0 8 24
Color 0 25 0 9 9 0 6 24
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 21 0 10 2 0 10 22
GeneDx 0 12 0 9 8 0 3 20
Illumina Clinical Services Laboratory,Illumina 0 1 0 6 1 0 2 9
OMIM 0 15 0 4 0 1 3 8
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 66 0 0 0 0 8 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 14 0 2 1 0 3 6
Quest Diagnostics Nichols Institute San Juan Capistrano 0 4 0 2 4 0 0 6
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 5 0 3 0 0 3 6
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 5 0 2 3 0 1 6
Fulgent Genetics 0 5 0 5 0 0 0 5
CSER_CC_NCGL; University of Washington Medical Center 0 10 0 1 2 0 2 5
Institute for Integrative and Experimental Genomics,University of Luebeck 0 2 0 4 0 0 1 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 12 0 2 3 0 0 5
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 7 0 1 0 0 3 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 2 0 1 2 0 0 3
GeneReviews 0 1 0 0 0 0 2 2
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 47 0 0 0 0 2 2
Athena Diagnostics Inc 0 2 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
PreventionGenetics 0 1 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 0 0 0 0 1 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 1 0 0 1
Blueprint Genetics, 0 3 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 1 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 1 0 0 0 1
Iberoamerican FH Network 0 45 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 188
Download table as spreadsheet
HGVS dbSNP
FH Bologna 2
FH Vancouver 4
NC_000019.9:g.(?_11200038)_(11211022_11213339)del
NM_000384.2(APOB):c.10131G>A (p.Leu3377=) rs1799812
NM_000384.2(APOB):c.10294C>G (p.Gln3432Glu) rs1042023
NM_000384.2(APOB):c.10579C>T (p.Arg3527Trp) rs144467873
NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.2(APOB):c.10672C>T (p.Arg3558Cys) rs12713559
NM_000384.2(APOB):c.12382G>A (p.Val4128Met) rs1801703
NM_000384.2(APOB):c.12940A>G (p.Ile4314Val) rs72654423
NM_000384.2(APOB):c.2853G>A (p.Glu951=) rs151193347
NM_000384.2(APOB):c.8148C>T (p.Ile2716=) rs6413458
NM_000527.4(LDLR):c.-120C>T rs875989886
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.-136C>G rs879254374
NM_000527.4(LDLR):c.-140C>G rs875989887
NM_000527.4(LDLR):c.-155_-154delACinsTTCTGCAAACTCCT rs879254365
NM_000527.4(LDLR):c.-268G>T rs17249134
NM_000527.4(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.4(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.4(LDLR):c.1045del (p.Gln349Serfs) rs879254765
NM_000527.4(LDLR):c.1054T>C (p.Cys352Arg) rs879254769
NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.4(LDLR):c.1060+10G>A rs12710260
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1066G>C (p.Asp356His) rs767767730
NM_000527.4(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
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.1130G>A (p.Cys377Tyr) rs879254801
NM_000527.4(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.4(LDLR):c.1135T>C (p.Cys379Arg) rs879254803
NM_000527.4(LDLR):c.1136G>A (p.Cys379Tyr) rs879254804
NM_000527.4(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356
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.1199_1207delACCTCTTCT (p.Tyr400_Phe402del) rs879254826
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.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1247G>A (p.Arg416Gln) rs773658037
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.1297G>C (p.Asp433His) rs121908036
NM_000527.4(LDLR):c.1301C>A (p.Thr434Lys) rs745343524
NM_000527.4(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.4(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.4(LDLR):c.1358+1G>A rs775924858
NM_000527.4(LDLR):c.1359-1G>A rs139617694
NM_000527.4(LDLR):c.1359-1G>C rs139617694
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.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1585G>C (p.Gly529Arg) rs730882108
NM_000527.4(LDLR):c.1586+5G>A rs781362878
NM_000527.4(LDLR):c.1587-?_2140+?del
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1661C>T (p.Ser554Leu) rs879254976
NM_000527.4(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1691A>G (p.Asn564Ser) rs758194385
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1706-2A>C rs878854027
NM_000527.4(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.4(LDLR):c.1721G>A (p.Arg574His) rs777188764
NM_000527.4(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.4(LDLR):c.1750T>C (p.Ser584Pro) rs879255010
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.1800G>C (p.Glu600Asp) rs764104777
NM_000527.4(LDLR):c.1814T>C (p.Leu605Pro) rs875989932
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.1865A>G (p.Asp622Gly) rs879255060
NM_000527.4(LDLR):c.1871_1873del (p.Ile624del) rs879255062
NM_000527.4(LDLR):c.1878delA (p.E626Efs*38) rs1057516134
NM_000527.4(LDLR):c.188G>A (p.Cys63Tyr) rs879254427
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.191-2A>G rs544203837
NM_000527.4(LDLR):c.191-2delinsCT rs879254432
NM_000527.4(LDLR):c.191-?_940+?del
NM_000527.4(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.4(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.4(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.4(LDLR):c.1965C>G (p.Phe655Leu) rs879255090
NM_000527.4(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.4(LDLR):c.1977C>A (p.Thr659=) rs72658866
NM_000527.4(LDLR):c.1988-2A>T rs879255101
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
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.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.2099A>G (p.Asp700Gly) rs879255139
NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.4(LDLR):c.2119G>T (p.Asp707Tyr) rs879255142
NM_000527.4(LDLR):c.2140+1G>A rs145787161
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2311+2T>G rs879255176
NM_000527.4(LDLR):c.2312-?_2547+?del
NM_000527.4(LDLR):c.2360T>A (p.Val787Glu) rs879255182
NM_000527.4(LDLR):c.2375T>C (p.Ile792Thr) rs764493597
NM_000527.4(LDLR):c.2389+4A>G rs758493597
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2390-1G>C rs879255193
NM_000527.4(LDLR):c.2390-?_2547+?del
NM_000527.4(LDLR):c.2397_2405delCGTCTTCCT (p.Val800_Leu802del) rs875989944
NM_000527.4(LDLR):c.240C>A (p.Asn80Lys) rs879254444
NM_000527.4(LDLR):c.2416dupG (p.Val806Glyfs) rs773618064
NM_000527.4(LDLR):c.241C>T (p.Arg81Cys) rs730882078
NM_000527.4(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294
NM_000527.4(LDLR):c.2475C>A (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.2544dup (p.Ser849Leufs) rs879255222
NM_000527.4(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.4(LDLR):c.283T>G (p.Cys95Gly) rs879254456
NM_000527.4(LDLR):c.284G>A (p.Cys95Tyr) rs879254457
NM_000527.4(LDLR):c.2T>C (p.Met1Thr) rs1555800701
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+1G>C rs112029328
NM_000527.4(LDLR):c.313+2dupT rs875989897
NM_000527.4(LDLR):c.313+5G>A rs879254467
NM_000527.4(LDLR):c.337G>A (p.Glu113Lys) rs769383881
NM_000527.4(LDLR):c.346T>C (p.Cys116Arg) rs879254482
NM_000527.4(LDLR):c.361T>C (p.Cys121Arg) rs879254492
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
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.44T>C (p.Leu15Pro) rs879254390
NM_000527.4(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.4(LDLR):c.464G>A (p.Cys155Tyr) rs879254536
NM_000527.4(LDLR):c.47T>C (p.Leu16Pro) rs879254391
NM_000527.4(LDLR):c.48C>A (p.Leu16=) rs565675103
NM_000527.4(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.4(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.4(LDLR):c.514G>A (p.Asp172Asn) rs879254554
NM_000527.4(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.533A>G (p.Asp178Gly) rs875989902
NM_000527.4(LDLR):c.550T>C (p.Cys184Arg) rs879254572
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.4(LDLR):c.626G>A (p.Cys209Tyr) rs879254600
NM_000527.4(LDLR):c.661G>T (p.Asp221Tyr) rs875989906
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.663_683dup21 (p.Asp227_Glu228insAspCysLysAspLysSerAsp) rs879254620
NM_000527.4(LDLR):c.665G>T (p.Cys222Phe) rs730882086
NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.4(LDLR):c.676T>C (p.Ser226Pro) rs879254635
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.4(LDLR):c.695-?_817+?del
NM_000527.4(LDLR):c.737G>A (p.Gly246Glu) rs879254661
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.4(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.4(LDLR):c.800A>C (p.Glu267Ala) rs879254680
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.826T>G (p.Cys276Gly) rs879254692
NM_000527.4(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.889A>C (p.Asn297His) rs879254709
NM_000527.4(LDLR):c.895G>T (p.Ala299Ser) rs879254711
NM_000527.4(LDLR):c.898A>G (p.Arg300Gly) rs767618089
NM_000527.4(LDLR):c.902A>G (p.Asp301Gly) rs879254714
NM_000527.4(LDLR):c.905G>A (p.Cys302Tyr) rs879254715
NM_000527.4(LDLR):c.910G>C (p.Asp304His) rs121908030
NM_000527.4(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.4(LDLR):c.937T>C (p.Cys313Arg) rs879254728
NM_000527.4(LDLR):c.938G>A (p.Cys313Tyr) rs875989911
NM_000527.4(LDLR):c.941-39C>T rs55792959
NM_000527.4(LDLR):c.941-?_1060+?del
NM_000527.4(LDLR):c.941-?_1586+?del
NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu) rs11591147

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