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 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
15 38 0 51 20 0 38 91

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 17 3 1 0
likely pathogenic 31 0 7 1 1
uncertain significance 22 23 0 14 11
likely benign 1 1 2 0 1
benign 0 0 1 2 0

Submitter to submitter summary #

Total submitters: 62
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
Labcorp Genetics (formerly Invitae), Labcorp 0 27 0 28 7 0 19 54
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 24 0 20 4 0 18 42
LDLR-LOVD, British Heart Foundation 0 60 0 13 5 0 22 40
Color Diagnostics, LLC DBA Color Health 0 32 0 13 7 0 10 30
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 17 0 14 1 0 10 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
All of Us Research Program, National Institutes of Health 0 16 0 10 0 0 13 23
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 20 0 8 2 0 10 20
Revvity Omics, Revvity 0 12 0 12 0 0 7 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 17 0 11 0 0 8 19
Robarts Research Institute, Western University 0 14 0 13 3 0 3 19
Natera, Inc. 0 14 0 5 3 0 3 11
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 14 0 7 0 0 3 10
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 8 0 5 0 0 5 10
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 11 0 6 0 0 4 10
GENinCode PLC 0 7 0 4 6 0 0 10
Fulgent Genetics, Fulgent Genetics 0 10 0 8 0 0 1 9
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 12 0 7 1 0 1 9
Illumina Laboratory Services, Illumina 0 5 0 2 5 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 8 0 1 0 0 6 7
MGZ Medical Genetics Center 0 2 0 1 0 0 5 6
Institute of Human Genetics, University of Leipzig Medical Center 0 9 0 4 0 0 2 6
OMIM 0 10 0 3 0 0 2 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 4 0 4 0 0 1 5
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 9 0 3 0 0 2 5
Institute for Integrative and Experimental Genomics, University of Luebeck 0 2 0 3 1 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 4 0 2 0 0 2 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 2 0 0 1 3
Mendelics 0 1 0 2 1 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 0 0 1 0 0 2 3
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 1 0 1 2 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 2 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 1 0 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 2 0 0 1 3
New York Genome Center 0 2 0 2 0 0 1 3
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 4 0 2 0 0 1 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 2 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 0 2 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 6 0 1 1 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 2 2
3billion, Medical Genetics 0 2 0 2 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 0 0 0 2 0 0 0 2
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 0 1 0 0 0 0 2 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1 1
Blueprint Genetics 0 3 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 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
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1 1
Fundacion Hipercolesterolemia Familiar 0 45 0 0 0 0 1 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 1 0 0 0 1
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 3 0 1 0 0 0 1
UCSF Pediatric Lipid Clinic, University of California, San Francisco 0 0 0 1 0 0 0 1
Fundacion Favaloro, PRICAI 0 0 0 1 0 0 0 1
Genome-Nilou Lab 0 3 0 0 0 0 1 1
Suma Genomics 0 0 0 0 0 0 1 1
DASA 0 0 0 0 0 0 1 1
Cohesion Phenomics 0 6 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 91
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00500
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys) rs539080792 0.00016
NM_000384.3(APOB):c.11466G>A (p.Val3822=) rs755842633 0.00011
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1078G>C (p.Asp360His) rs777926251 0.00004
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.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_174936.4(PCSK9):c.1432G>A (p.Ala478Thr) rs375582388 0.00003
NM_000384.3(APOB):c.1266A>G (p.Ser422=) rs752197838 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323 0.00001
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp) rs878854025 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047 0.00001
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
FH Bologna 2
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
NC_000019.10:g.11089414C>G
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000527.4(LDLR):c.-140C>A
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
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.1186+5G>A rs879254821
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
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.1415_1418dup (p.Gln474fs) rs879254892
NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1637G>T (p.Gly546Val) rs28942081
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1705+1G>A rs875989926
NM_000527.5(LDLR):c.1706-10G>A
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.1879G>A (p.Ala627Thr) rs879255066
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln) rs1555808091
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr) rs879254457
NM_000527.5(LDLR):c.311G>T (p.Cys104Phe) rs875989895
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.401G>T (p.Cys134Phe) rs879254514
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.428G>T (p.Cys143Phe) rs879254522
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.646T>C (p.Cys216Arg) rs879254610
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.684G>C (p.Glu228Asp) rs1208216597
NM_000527.5(LDLR):c.690C>T (p.Asn230=) rs879254643
NM_000527.5(LDLR):c.695-1G>T rs879254652
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg) rs879254659
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg) rs879254697
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.5(LDLR):c.920A>G (p.Asp307Gly) rs1555803908
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)

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