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 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
0 0 0 12 18 0 14 25

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 7 7
likely benign 3 3 10 0 10

Submitter to submitter summary #

Total submitters: 27
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 0 0 11 6 0 6 23
Invitae 0 7 0 7 7 0 1 15
LDLR-LOVD, British Heart Foundation 0 9 0 7 6 0 2 15
Color Health, Inc 0 9 0 8 5 0 1 14
Illumina Clinical Services Laboratory,Illumina 0 7 0 6 3 0 0 9
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 de Lille - CHRU de Lille 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
Robarts Research Institute,Western University 0 4 0 3 2 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
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 4 0 1 5
Natera, Inc. 0 5 0 3 2 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 3 1 0 0 4
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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 2 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 0 0 1
Mendelics 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1 0 0 0 1
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 1 0 1 0 0 0 1
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_000527.4(LDLR):c.508G>A (p.Asp170Asn) rs139089530
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926
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.2252G>A (p.Arg751Gln) rs200142970
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.941-4G>A

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