ClinVar Miner

Variants from Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine with conflicting interpretations

Location: unspecified — Primary collection method: research
Minimum review status of the submission from Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine: Collection method of the submission from Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine:
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 7 4 0 16 22

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
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 7 0 4 1 0
uncertain significance 10 11 0 4 1

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
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 1 0 6 1 0 8 15
Invitae 0 2 0 3 1 0 8 12
Color Health, Inc 0 3 0 3 1 0 7 11
LDLR-LOVD, British Heart Foundation 0 8 0 0 1 0 9 10
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 0 0 4 0 0 6 10
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 3 0 1 3 0 5 9
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 1 0 2 0 0 6 8
Integrated Genetics/Laboratory Corporation of America 0 2 0 3 0 0 4 7
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 2 0 4 0 0 3 7
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 6 0 2 0 0 4 6
Robarts Research Institute,Western University 0 3 0 1 0 0 5 6
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 5 0 0 0 0 4 4
Fundacion Hipercolesterolemia Familiar 0 6 0 2 0 0 2 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 2 3
Iberoamerican FH Network 0 4 0 2 0 0 1 3
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 0 0 3 3
OMIM 0 0 0 1 0 0 1 2
Natera, Inc. 0 0 0 1 0 0 1 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 0 0 0 2 2
Illumina Clinical Services Laboratory,Illumina 0 0 0 1 1 0 0 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 5 0 2 0 0 0 2
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 1 0 0 1 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 0 0 0 1 1
Institute for Integrative and Experimental Genomics,University of Luebeck 0 2 0 0 1 0 0 1
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 0 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 0 1 0 0 0 1
UCSF Pediatric Lipid Clinic, University of California, San Francisco 0 0 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro) rs879255010
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.2001_2002del (p.Cys667_Glu668delinsTer) rs1600743301
NM_000527.5(LDLR):c.2448G>C rs1399689294
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.768C>A rs879254671
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr) rs879254715
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_174936.4(PCSK9):c.1399C>G rs772677312

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