ClinVar Miner

Variants from Cardiovascular Biomarker Research Laboratory,Mayo Clinic with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Cardiovascular Biomarker Research Laboratory,Mayo Clinic: Collection method of the submission from Cardiovascular Biomarker Research Laboratory,Mayo Clinic:
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
0 1 0 13 17 0 18 24

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
Cardiovascular Biomarker Research Laboratory,Mayo Clinic pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 2 0 1 0 0
uncertain significance 5 5 0 8 7
likely benign 3 7 9 0 11

Submitter to submitter summary #

Total submitters: 26
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 0 0 11 6 0 6 23
LDLR-LOVD, British Heart Foundation 0 9 0 7 6 0 2 15
Color 0 7 0 8 5 0 0 13
Invitae 0 5 0 7 5 0 0 12
GeneDx 0 2 0 6 4 0 1 11
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 4 0 4 4 0 1 9
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 4 0 4 3 0 1 8
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 2 0 1 1 0 6 8
Robarts Research Institute,Western University 0 2 0 1 1 0 6 8
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 2 0 6 1 0 1 8
Integrated Genetics/Laboratory Corporation of America 0 4 0 1 5 0 1 7
CSER_CC_NCGL; University of Washington Medical Center 0 3 0 0 5 0 1 6
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 2 0 3 2 0 1 6
Fundacion Hipercolesterolemia Familiar 0 5 0 2 3 0 1 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 1 3 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 3 1 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 1 0 3 1 0 0 4
PreventionGenetics 0 1 0 3 0 0 0 3
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 2 0 1 1 0 1 3
Iberoamerican FH Network 0 1 0 1 2 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 3 0 1 1 0 0 2
Institute for Integrative and Experimental Genomics,University of Luebeck 0 1 0 0 0 0 2 2
Athena Diagnostics Inc 0 1 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 1 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_000527.4(LDLR):c.1060+10G>C rs12710260
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1194C>T (p.Ile398=) rs13306498
NM_000527.4(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1691A>G (p.Asn564Ser) rs758194385
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1837G>A (p.Val613Ile) rs148181903
NM_000527.4(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.2252G>A (p.Arg751Gln) rs200142970
NM_000527.4(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.4(LDLR):c.508G>A (p.Asp170Asn) rs139089530
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
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.941-4G>A rs116405216

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