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 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
44 89 0 109 26 0 93 196

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
pathogenic 0 47 4 2 0
likely pathogenic 55 0 11 5 0
uncertain significance 50 52 0 20 14
likely benign 1 1 3 0 4
benign 1 1 2 3 0

Submitter to submitter summary #

Total submitters: 63
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
LDLR-LOVD, British Heart Foundation 0 142 0 36 14 0 50 100
Invitae 0 77 0 42 7 0 32 81
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 47 0 39 7 0 33 79
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 38 0 30 2 0 15 47
Color Diagnostics, LLC DBA Color Health 0 47 0 20 9 0 16 45
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 26 0 26 6 0 6 38
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 45 0 11 4 0 20 35
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 21 0 16 3 0 13 32
Revvity Omics, Revvity 0 23 0 18 0 0 8 26
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 23 0 16 0 0 8 24
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 21 0 10 2 0 10 22
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 20 0 18 0 0 3 21
Natera, Inc. 0 21 0 5 5 0 4 14
Fulgent Genetics, Fulgent Genetics 0 17 0 12 0 0 1 13
Illumina Laboratory Services, Illumina 0 6 0 6 3 0 2 11
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 13 0 4 0 0 6 10
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 9 0 4 0 0 6 10
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 67 0 0 0 0 8 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 12 0 3 0 0 5 8
MGZ Medical Genetics Center 0 3 0 2 0 0 5 7
OMIM 0 15 0 4 0 0 2 6
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 5 0 2 3 0 1 6
Institute of Human Genetics, University of Leipzig Medical Center 0 13 0 3 2 0 1 6
Institute for Integrative and Experimental Genomics, University of Luebeck 0 2 0 4 0 0 1 5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 4 0 5 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 11 0 2 3 0 0 5
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 0 0 2 0 0 2 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 3 0 0 1 4
New York Genome Center 0 3 0 3 0 0 1 4
3billion 0 3 0 3 0 0 1 4
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 6 0 2 0 0 2 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 2 0 0 1 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 1 2 0 0 3
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 47 0 0 0 0 3 3
Cohesion Phenomics 0 0 0 0 3 0 0 3
Mendelics 0 3 0 1 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 1 2
Genetics and Molecular Pathology, SA Pathology 0 0 0 2 0 0 0 2
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 7 0 1 0 0 1 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 3 0 0 0 0 2 2
Genome-Nilou Lab 0 0 0 0 1 0 1 2
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 2 0 0 0 0 2 2
Laan Lab, Human Genetics Research Group, University of Tartu 0 0 0 2 0 0 0 2
Baylor Genetics 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
GeneReviews 0 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 0 0 1 1
Blueprint Genetics 0 3 0 1 0 0 0 1
Iberoamerican FH Network 0 45 0 0 0 0 1 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 0 0 0 0 1 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 0 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
Clinical Genomics Program, Stanford Medicine 0 1 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 2 0 1 0 0 0 1
Suma Genomics 0 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 0 0 0 1 1
DASA 0 1 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 1 1
Arcensus 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 196
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458 0.02288
NM_000527.4(LDLR):c.-268G>T rs17249134 0.00679
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812 0.00564
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866 0.00032
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) rs773658037 0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597 0.00003
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294 0.00003
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) rs879254554 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.4(LDLR):c.-120C>T rs875989886 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.48C>A (p.Leu16=) rs565675103 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
NM_000527.5(LDLR):c.889A>C (p.Asn297His) rs879254709 0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly) rs767618089 0.00001
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) rs875989911 0.00001
FH Bologna 2
FH Cape Town 2
FH Vancouver 4
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.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.-136C>G rs879254374
NM_000527.4(LDLR):c.-140C>G rs875989887
NM_000527.4(LDLR):c.1587-?_2140+?del
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.191-?_940+?del
NM_000527.4(LDLR):c.2312-?_2547+?del
NM_000527.4(LDLR):c.2390-?_2547+?del
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.4(LDLR):c.695-?_817+?del
NM_000527.4(LDLR):c.941-?_1060+?del
NM_000527.4(LDLR):c.941-?_1586+?del
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.5(LDLR):c.1045del (p.Gln349fs) rs879254765
NM_000527.5(LDLR):c.1054T>C (p.Cys352Arg) rs879254769
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1066G>C (p.Asp356His) rs767767730
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr) rs879254801
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr) rs879254804
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
NM_000527.5(LDLR):c.1186+5G>A rs879254821
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1297G>C (p.Asp433His) rs121908036
NM_000527.5(LDLR):c.1301C>A (p.Thr434Lys) rs745343524
NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.5(LDLR):c.1358+1G>A rs775924858
NM_000527.5(LDLR):c.1359-1G>C rs139617694
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro) rs879254900
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1706-2A>C rs878854027
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro) rs879255010
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp)
NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro) rs875989932
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly) rs879255060
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
NM_000527.5(LDLR):c.1878del (p.Ala627fs) rs1057516134
NM_000527.5(LDLR):c.187T>C (p.Cys63Arg) rs879254426
NM_000527.5(LDLR):c.188G>A (p.Cys63Tyr) rs879254427
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.191-2A>G rs544203837
NM_000527.5(LDLR):c.191-2delinsCT rs879254432
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.5(LDLR):c.1965C>G (p.Phe655Leu) rs879255090
NM_000527.5(LDLR):c.1988-2A>T rs879255101
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
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.2099A>G (p.Asp700Gly) rs879255139
NM_000527.5(LDLR):c.2119G>T (p.Asp707Tyr) rs879255142
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2311+2T>G rs879255176
NM_000527.5(LDLR):c.2360T>A (p.Val787Glu) rs879255182
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2390-1G>C rs879255193
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.240C>A (p.Asn80Lys) rs879254444
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2475C>A (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2544dup (p.Ser849fs) rs879255222
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.5(LDLR):c.283T>G (p.Cys95Gly) rs879254456
NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr) rs879254457
NM_000527.5(LDLR):c.2T>C (p.Met1Thr) rs1555800701
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.313+5G>A
NM_000527.5(LDLR):c.346T>C (p.Cys116Arg) rs879254482
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg) rs879254492
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.428G>C (p.Cys143Ser) rs879254522
NM_000527.5(LDLR):c.442T>C (p.Cys148Arg) rs879254525
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.5(LDLR):c.464G>A (p.Cys155Tyr) rs879254536
NM_000527.5(LDLR):c.47T>C (p.Leu16Pro) rs879254391
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly) rs875989902
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg) rs879254572
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) rs879254600
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr) rs879254611
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup) rs879254620
NM_000527.5(LDLR):c.665G>T (p.Cys222Phe) rs730882086
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.672_686del (p.Asp224_Glu228del) rs1555803439
NM_000527.5(LDLR):c.676T>C (p.Ser226Pro) rs879254635
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.737G>A (p.Gly246Glu) rs879254661
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.800A>C (p.Glu267Ala) rs879254680
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.826T>G (p.Cys276Gly) rs879254692
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.5(LDLR):c.895G>A (p.Ala299Thr) rs879254711
NM_000527.5(LDLR):c.895G>T (p.Ala299Ser) rs879254711
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)
NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr) rs879254715
NM_000527.5(LDLR):c.910G>C (p.Asp304His) rs121908030
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.5(LDLR):c.937T>C (p.Cys313Arg) rs879254728
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NR_163945.1(LDLR-AS1):n.265_266delinsAGGAGTTTGCAGAA rs879254365
Single allele
c.(?_-187)_(190+1_191-1)del

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