ClinVar Miner

Variants from Iberoamerican FH Network with conflicting interpretations

Location: Spain — Primary collection method: research
Minimum review status of the submission from Iberoamerican FH Network: Collection method of the submission from Iberoamerican FH Network:
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
22 35 0 50 18 0 38 87

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
Iberoamerican FH Network pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 18 3 1 0
likely pathogenic 22 0 5 2 1
uncertain significance 19 22 0 13 9
likely benign 1 1 2 0 2
benign 1 0 2 8 0

Submitter to submitter summary #

Total submitters: 32
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
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 24 0 20 4 0 19 43
LDLR-LOVD, British Heart Foundation 0 60 0 13 5 0 22 40
Invitae 0 21 0 10 9 0 10 29
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 17 0 14 0 0 11 25
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 30 0 10 2 0 11 23
Color 0 20 0 7 9 0 4 20
Robarts Research Institute,Western University 0 13 0 14 3 0 3 20
Integrated Genetics/Laboratory Corporation of America 0 9 0 9 3 0 6 18
GeneDx 0 14 0 4 8 0 4 16
Illumina Clinical Services Laboratory,Illumina 0 3 0 8 3 0 1 12
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 14 0 7 0 0 3 10
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 11 0 6 0 0 4 10
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 12 0 2 2 0 3 7
CSER_CC_NCGL; University of Washington Medical Center 0 3 0 1 3 0 2 6
OMIM 0 10 0 3 0 0 1 4
PreventionGenetics 0 5 0 3 1 0 0 4
Fulgent Genetics 0 4 0 4 0 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 3 0 2 2 0 0 4
Institute for Integrative and Experimental Genomics,University of Luebeck 0 2 0 3 1 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 12 0 1 3 0 0 4
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 5 0 2 0 0 1 3
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 1 0 1 2 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 0 0 2 0 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 5 0 1 0 0 1 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 1 1 0 0 2
Athena Diagnostics Inc 0 3 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 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
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 44 0 0 0 0 1 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 47 0 0 0 0 1 1
Fundacion Hipercolesterolemia Familiar 0 45 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 87
Download table as spreadsheet
HGVS dbSNP
FH Bologna 2
NC_000019.9:g.(11200292_11210898)_(11222316_11223953)dup
NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.2(APOB):c.11354C>T (p.Thr3785Ile) rs143710616
NM_000384.2(APOB):c.11401T>A (p.Ser3801Thr) rs12713540
NM_000384.2(APOB):c.1470+15T>C rs185550846
NM_000384.2(APOB):c.3337G>C (p.Asp1113His) rs12713844
NM_000384.2(APOB):c.6639_6641delTGA (p.Asp2213del) rs541497967
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.-140C>A rs875989887
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.4(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.4(LDLR):c.1090T>C (p.Cys364Arg) rs879254787
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.1186+5G>A rs879254821
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) rs121908043
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.1307T>C (p.Val436Ala) rs779732323
NM_000527.4(LDLR):c.1352T>C (p.Ile451Thr) rs879254874
NM_000527.4(LDLR):c.139G>A (p.Asp47Asn) rs778284147
NM_000527.4(LDLR):c.1415_1418dupACAT (p.Gln474Hisfs) rs879254892
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1705+1G>A rs875989926
NM_000527.4(LDLR):c.1706-10G>A rs17248882
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.1784G>A (p.Arg595Gln) rs201102492
NM_000527.4(LDLR):c.1801G>C (p.Asp601His) rs753707206
NM_000527.4(LDLR):c.1845G>A (p.Glu615=) rs879255047
NM_000527.4(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.4(LDLR):c.1999T>C (p.Cys667Arg) rs150021927
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.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2231_2232delGAinsAG (p.Arg744Gln) rs1555808091
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2389+4A>G rs758493597
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2397_2405delCGTCTTCCT (p.Val800_Leu802del) rs875989944
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.274C>G (p.Gln92Glu) rs774467219
NM_000527.4(LDLR):c.284G>A (p.Cys95Tyr) rs879254457
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.311G>T (p.Cys104Phe) rs875989895
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.337G>T (p.Glu113Ter) rs769383881
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
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.654_656delTGG (p.Gly219del) rs121908027
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
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.690C>T (p.Asn230=) rs879254643
NM_000527.4(LDLR):c.695-1G>T rs879254652
NM_000527.4(LDLR):c.727T>C (p.Cys243Arg) rs879254659
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.846C>A (p.Phe282Leu) rs730882090
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.865T>C (p.Cys289Arg) rs879254697
NM_000527.4(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.941-39C>T rs55792959
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.4(LDLR):c.977C>G (p.Ser326Cys) rs879254747
NM_174936.3(PCSK9):c.1380A>G (p.Val460=) rs540796
NM_174936.3(PCSK9):c.141C>T (p.Ser47=) rs28385701
NM_174936.3(PCSK9):c.2009G>A (p.Gly670Glu) rs505151
NM_174936.3(PCSK9):c.207+15A>G rs2495482
NM_174936.3(PCSK9):c.63_65dupGCT (p.Leu23_Gly24insLeu) rs35574083
NM_174936.3(PCSK9):c.658-7C>T rs2483205
NM_174936.3(PCSK9):c.720C>T (p.Gly240=) rs41297883
NM_174936.3(PCSK9):c.799+3A>G rs2495477
NM_174936.3(PCSK9):c.85delC (p.Arg29Valfs) rs1553135406

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