ClinVar Miner

Variants from Institute for Integrative and Experimental Genomics,University of Luebeck with conflicting interpretations

Location: Germany — Primary collection method: research
Minimum review status of the submission from Institute for Integrative and Experimental Genomics,University of Luebeck: Collection method of the submission from Institute for Integrative and Experimental Genomics,University of Luebeck:
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
4 1 0 11 7 0 7 19

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
Institute for Integrative and Experimental Genomics,University of Luebeck pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 7 0 3 3 2
likely benign 3 2 7 0 4

Submitter to submitter summary #

Total submitters: 33
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 3 0 7 3 0 5 15
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 0 0 7 0 0 5 12
Invitae 0 0 0 6 0 0 5 11
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 0 0 6 0 0 3 9
LDLR-LOVD, British Heart Foundation 0 4 0 2 0 0 5 7
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 3 2 0 2 7
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 0 0 5 0 0 1 6
Integrated Genetics/Laboratory Corporation of America 0 0 0 4 1 0 1 6
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 1 0 2 2 0 2 6
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 1 0 4 0 0 2 6
Natera, Inc. 0 0 0 3 0 0 2 5
Robarts Research Institute,Western University 0 7 0 2 1 0 2 5
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 3 0 0 2 5
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 3 0 2 0 0 3 5
Fundacion Hipercolesterolemia Familiar 0 2 0 4 0 0 1 5
Illumina Clinical Services Laboratory,Illumina 0 1 0 3 0 0 1 4
Iberoamerican FH Network 0 2 0 3 1 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 1 0 1 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 3 0 0 0 3
OMIM 0 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 0 0 1 2
Mendelics 0 0 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 1 0 0 1 2
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 1 0 0 0 0 2 2
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 1 0 0 1 2
Baylor Genetics 0 0 0 0 0 0 1 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 0 0 0 0 0 1 1
Blueprint Genetics 0 0 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 0 0 0 1 1
UCSF Pediatric Lipid Clinic, University of California, San Francisco 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 2 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.2585T>C (p.Val862Ala) rs145142090
NM_000384.3(APOB):c.499C>T (p.Pro167Ser) rs139842930
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1359-1G>A rs139617694
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.313+2T>C rs793888517
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.811G>A (p.Val271Ile) rs749220643
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_174936.4(PCSK9):c.610G>A (p.Asp204Asn) rs793888521

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