ClinVar Miner

Variants from Laboratory of Genetics and Molecular Cardiology, University of São Paulo with conflicting interpretations

Location: Brazil — Primary collection method: research
Minimum review status of the submission from Laboratory of Genetics and Molecular Cardiology, University of São Paulo: Collection method of the submission from Laboratory of Genetics and Molecular Cardiology, University of São Paulo:
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
103 65 0 86 73 0 81 207

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
Laboratory of Genetics and Molecular Cardiology, University of São Paulo pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 32 9 1 0
likely pathogenic 42 0 20 3 1
uncertain significance 34 29 0 58 33
likely benign 1 1 3 0 6
benign 1 0 4 6 0

Submitter to submitter summary #

Total submitters: 50
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
Color Health, Inc 0 48 0 15 51 0 15 81
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 42 0 25 9 0 29 63
LDLR-LOVD, British Heart Foundation 0 74 0 22 18 0 22 62
Invitae 0 38 0 18 16 0 15 49
Robarts Research Institute,Western University 0 26 0 22 20 0 4 46
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 36 0 15 9 0 13 37
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 26 0 14 1 0 16 31
Integrated Genetics/Laboratory Corporation of America 0 20 0 10 3 0 6 19
Illumina Clinical Services Laboratory,Illumina 0 10 0 5 9 0 2 16
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 15 0 8 1 0 5 14
OMIM 0 14 0 12 0 0 1 13
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 5 0 3 9 0 1 13
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 22 0 10 0 0 3 13
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 24 0 7 1 0 4 12
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 9 0 9 0 0 1 10
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 8 0 5 0 0 4 9
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 4 0 4 4 0 1 9
Fundacion Hipercolesterolemia Familiar 0 67 0 0 0 0 8 8
Natera, Inc. 0 12 0 3 4 0 0 7
Institute for Integrative and Experimental Genomics,University of Luebeck 0 1 0 3 2 0 2 7
Mendelics 0 2 0 0 2 0 3 5
Broad Institute Rare Disease Group, Broad Institute 0 6 0 2 0 0 3 5
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 3 0 0 1 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 4 0 0 0 4
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 70 0 0 0 0 4 4
Blueprint Genetics 0 6 0 3 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 0 0 0 2 0 0 1 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 2 0 0 1 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 2 0 0 1 3
Phosphorus, Inc. 0 2 0 2 0 0 1 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 11 0 3 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 3 0 0 0 3
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 7 0 3 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 1 0 1 1 0 0 2
Fulgent Genetics,Fulgent Genetics 0 6 0 2 0 0 0 2
CSER _CC_NCGL, University of Washington 0 2 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 6 0 2 0 0 0 2
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 5 0 2 0 0 0 2
Athena Diagnostics Inc 0 0 0 1 0 0 0 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 0 0 0 0 1 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 0 1
GeneDx 0 0 0 1 0 0 0 1
Ambry Genetics 0 0 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 1 0 0 0 1
Laboratory of Human Genetics,Universidade de São Paulo 0 0 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 0 0 1 1
Iberoamerican FH Network 0 44 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 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 207
Download table as spreadsheet
HGVS dbSNP
FH Bologna 2
FH Cape Town 2
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) rs121913638
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) rs121913630
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His) rs373514686
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys) rs763538103
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000258.3(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly)
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.1310G>A (p.Arg437His)
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.2863C>T (p.Pro955Ser)
NM_000384.3(APOB):c.2968G>A (p.Ala990Thr)
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.307T>C (p.Tyr103His)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)
NM_000384.3(APOB):c.433C>T (p.Pro145Ser)
NM_000384.3(APOB):c.4663A>G (p.Ile1555Val)
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000384.3(APOB):c.5768A>G (p.His1923Arg)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp)
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.-140C>A
NM_000527.4(LDLR):c.-152C>T
NM_000527.4(LDLR):c.-88G>A
NM_000527.4(LDLR):c.1175G>A (p.Cys392Tyr)
NM_000527.4(LDLR):c.1359-6C>T
NM_000527.4(LDLR):c.1585G>C (p.Gly529Arg)
NM_000527.4(LDLR):c.1586+16G>A
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.1800G>C (p.Glu600Asp)
NM_000527.4(LDLR):c.1845+1del
NM_000527.4(LDLR):c.191-?_940+?del
NM_000527.4(LDLR):c.1942T>G (p.Ser648Ala)
NM_000527.4(LDLR):c.1982C>T (p.Pro661Leu)
NM_000527.4(LDLR):c.2312-?_2547+?del
NM_000527.4(LDLR):c.2312C>T (p.Ala771Val)
NM_000527.4(LDLR):c.2389+7G>A
NM_000527.4(LDLR):c.2390-?_2547+?del
NM_000527.4(LDLR):c.2546del (p.Pro848_Ser849insTer)
NM_000527.4(LDLR):c.2548-19G>A
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.542C>T (p.Pro181Leu)
NM_000527.4(LDLR):c.695-?_817+?del
NM_000527.4(LDLR):c.817+9T>C
NM_000527.4(LDLR):c.853C>T (p.His285Tyr)
NM_000527.4(LDLR):c.940+9C>T
NM_000527.4(LDLR):c.941-?_1586+?del
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
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.1352T>C (p.Ile451Thr)
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1567G>T (p.Val523Leu)
NM_000527.5(LDLR):c.1570G>A (p.Val524Met)
NM_000527.5(LDLR):c.1586+1G>A
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.1845+2T>C
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2017A>C (p.Ser673Arg)
NM_000527.5(LDLR):c.2041T>A (p.Cys681Ser)
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.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2311+1G>T
NM_000527.5(LDLR):c.2312-3C>A
NM_000527.5(LDLR):c.2389+14G>A
NM_000527.5(LDLR):c.2389+41C>A
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
NM_000527.5(LDLR):c.313+5G>A
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.415G>A (p.Asp139Asn)
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.68-2A>G
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.694+25C>T
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.828C>G (p.Cys276Trp)
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter) rs778127887
NM_174936.3(PCSK9):c.1180G>A (p.Gly394Ser)
NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr)
NM_174936.3(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.3(PCSK9):c.1658A>G (p.His553Arg)
NM_174936.3(PCSK9):c.1660C>G (p.Gln554Glu)
NM_174936.3(PCSK9):c.1856A>C (p.Gln619Pro)
NM_174936.3(PCSK9):c.1979A>C (p.Asp660Ala)
NM_174936.3(PCSK9):c.385G>A (p.Asp129Asn)
NM_174936.3(PCSK9):c.94G>A (p.Glu32Lys)
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
c.(1060+1_1061-1)_(1186+1_1187-1)del
c.(1586+1_1587-1)_(1845+1_1846-1)dup
c.(190+1_191-1)_(694+1_695-1)dup
c.(313+1_314-1)_(1186+1_1187-1)dup
c.(?_-187)_(190+1_191-1)del

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