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 20 0 24 3 0 7 27

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 3 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: 38
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 Laboratory Services, Illumina 0 18 0 8 2 0 0 10
Invitae 0 20 0 8 1 0 0 9
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
Natera, Inc. 0 10 0 5 1 0 0 6
Color Diagnostics, LLC DBA Color Health 0 15 0 5 1 0 0 6
Robarts Research Institute, Western University 0 3 0 5 1 0 0 6
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
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 2 0 5 0 0 0 5
Revvity Omics, Revvity 0 8 0 3 0 0 0 3
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 Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 2 3
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 7 0 3 0 0 0 3
Cohesion Phenomics 0 6 0 3 0 0 0 3
All of Us Research Program, National Institutes of Health 0 7 0 3 0 0 0 3
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 7 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 6 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 6 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 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 4 0 2 0 0 0 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
Genome-Nilou Lab 0 11 0 2 0 0 0 2
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 1 0 0 1 2
MGZ Medical Genetics Center 0 1 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 0 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
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 1 0 0 0 1
Iberoamerican FH Network 0 3 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.*315G>C rs2738464 0.80309
NM_000527.5(LDLR):c.*666T>C rs1433099 0.65588
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37370
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_000527.5(LDLR):c.*504G>A rs2738465 0.29077
NM_000527.5(LDLR):c.*773A>G rs2738466 0.22642
NM_000527.5(LDLR):c.*141G>A rs3826810 0.06460
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=) rs9657022 0.00726
NM_000527.5(LDLR):c.1060+40G>A rs192390193 0.00260
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=) rs5293 0.00007
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
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.443G>A (p.Cys148Tyr) rs879254526
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.684G>C (p.Glu228Asp) rs1208216597
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)

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