ClinVar Miner

Variants from Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen: Collection method of the submission from Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen:
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
5 21 0 23 3 0 7 26

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
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 11 4 0 0
likely pathogenic 2 0 1 2 0
uncertain significance 1 1 0 1 1
likely benign 0 0 2 0 9
benign 0 0 0 1 0

Submitter to submitter summary #

Total submitters: 26
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
LDLR-LOVD, British Heart Foundation 0 15 0 11 1 0 0 12
Illumina Clinical Services Laboratory,Illumina 0 18 0 8 2 0 0 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 6 0 6 1 0 2 9
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 17 0 6 1 0 0 7
Color Health, Inc 0 12 0 5 1 0 0 6
Robarts Research Institute,Western University 0 3 0 5 1 0 0 6
Invitae 0 10 0 4 1 0 0 5
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 11 0 5 0 0 0 5
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 5 0 5 0 0 0 5
Natera, Inc. 0 6 0 3 1 0 0 4
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 7 0 3 0 0 0 3
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 10 0 2 0 0 1 3
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 0 2 3
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 7 0 2 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 6 0 2 0 0 0 2
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 1 0 0 1 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 1 0 0 1 2
Fundacion Hipercolesterolemia Familiar 0 7 0 1 0 0 1 2
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 7 0 0 0 0 2 2
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 0 0 1 0 0 1 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 5 0 1 0 0 0 1
Laboratory of Human Genetics,Universidade de São Paulo 0 0 0 0 0 0 1 1
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 1 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 0 1 0 0 0 1
Iberoamerican FH Network 0 3 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_000497.3(CYP11B1):c.1144C>T (p.Leu382=) rs5293
NM_000497.3(CYP11B1):c.243C>T (p.Tyr81=) rs9657022
NM_000527.4(LDLR):c.*141G>A rs3826810
NM_000527.4(LDLR):c.*315G>C rs2738464
NM_000527.4(LDLR):c.*504G>A rs2738465
NM_000527.4(LDLR):c.*666T>C rs1433099
NM_000527.4(LDLR):c.*773A>G rs2738466
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1060+40G>A rs192390193
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2312-3C>A
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) rs879254476
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.