ClinVar Miner

Variants from Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation with conflicting interpretations

Location: Czechia — Primary collection method: clinical testing
Minimum review status of the submission from Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation: Collection method of the submission from Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation:
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 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
30 58 0 86 11 0 45 113

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
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 18 3 2 2
likely pathogenic 63 0 31 5 1
uncertain significance 4 3 0 5 2
likely benign 2 2 3 0 1
benign 1 0 3 4 0

Submitter to submitter summary #

Total submitters: 35
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
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 18 0 52 2 0 5 59
Invitae 0 27 0 39 3 0 9 51
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 16 0 33 0 0 4 37
Color Health, Inc 0 26 0 21 5 0 7 33
Integrated Genetics/Laboratory Corporation of America 0 11 0 27 1 0 0 28
LDLR-LOVD, British Heart Foundation 0 133 0 12 4 0 12 28
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 8 0 25 1 0 1 27
Fundacion Hipercolesterolemia Familiar 0 21 0 10 2 0 10 22
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 14 0 13 0 0 2 15
Robarts Research Institute,Western University 0 27 0 10 1 0 2 13
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 24 0 7 1 0 4 12
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 21 0 8 1 0 3 12
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 45 0 3 3 0 6 12
OMIM 0 3 0 10 0 0 0 10
Natera, Inc. 0 5 0 6 1 0 3 10
Iberoamerican FH Network 0 11 0 6 0 0 4 10
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 14 0 8 0 0 1 9
Institute of Human Genetics, University of Leipzig Medical Center 0 5 0 5 1 0 3 9
Fulgent Genetics,Fulgent Genetics 0 1 0 8 0 0 0 8
Broad Institute Rare Disease Group, Broad Institute 0 4 0 3 0 0 5 8
Illumina Clinical Services Laboratory,Illumina 0 4 0 4 2 0 0 6
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 2 0 3 2 0 1 6
Institute for Integrative and Experimental Genomics,University of Luebeck 0 3 0 2 0 0 3 5
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 5 0 5 0 0 0 5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 5 0 3 0 0 1 4
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 5 0 0 0 0 4 4
Mendelics 0 0 0 0 0 0 2 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 0 0 1 0 0 0 1
Laboratory of Human Genetics,Universidade de São Paulo 0 0 0 0 0 0 1 1
UCSF Pediatric Lipid Clinic, University of California, San Francisco 0 0 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 0 0 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 113
Download table as spreadsheet
HGVS dbSNP
NM_000527.4(LDLR):c.-120C>T rs875989886
NM_000527.4(LDLR):c.-140C>A
NM_000527.4(LDLR):c.-149C>A rs879254368
NM_000527.4(LDLR):c.-153C>T rs879254366
NM_000527.4(LDLR):c.2320G>A (p.Asp774Asn) rs138190838
NM_000527.4(LDLR):c.510C>A (p.Asp170Glu) rs1060499931
NM_000527.4(LDLR):c.67+3968_940+296dup
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1066G>C (p.Asp356His) rs767767730
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del) rs879254830
NM_000527.5(LDLR):c.1217G>C (p.Arg406Pro) rs552422789
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val) rs879254838
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1247G>C (p.Arg416Pro) rs773658037
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048
NM_000527.5(LDLR):c.1552A>G (p.Lys518Glu) rs879254937
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg) rs879254965
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1715G>A (p.Ser572Asn) rs879254997
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.1829C>G (p.Ser610Cys) rs879255038
NM_000527.5(LDLR):c.1845+1G>A rs879255049
NM_000527.5(LDLR):c.1845+1G>T rs879255049
NM_000527.5(LDLR):c.1846-1G>A rs879255051
NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn) rs879255059
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly) rs879255060
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) rs770744861
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr)
NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe) rs879255136
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.5(LDLR):c.2132G>A (p.Cys711Tyr) rs879255145
NM_000527.5(LDLR):c.2140+2T>C rs879255147
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2311+1941_*1216dup
NM_000527.5(LDLR):c.2389+5G>A rs879255191
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr) rs875989895
NM_000527.5(LDLR):c.314-446_1187-386dup
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148
NM_000527.5(LDLR):c.388T>C (p.Ser130Pro) rs879254508
NM_000527.5(LDLR):c.3G>T (p.Met1Ile) rs879254383
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.5(LDLR):c.442T>C (p.Cys148Arg) rs879254525
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) rs879254600
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.676T>C (p.Ser226Pro) rs879254635
NM_000527.5(LDLR):c.68-2A>T rs879254396
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg) rs879254682
NM_000527.5(LDLR):c.817+1G>A rs879254685
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn) rs879254719
NM_000527.5(LDLR):c.940+1G>C rs879254729
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844

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