ClinVar Miner

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

Location: Russian Federation  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
1 3 0 8 4 0 15 23

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 8 0 4 1 0
uncertain significance 9 11 0 4 1

Submitter to submitter summary #

Total submitters: 50
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
Invitae 0 1 0 5 1 0 10 16
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 1 0 6 1 0 8 15
Color Diagnostics, LLC DBA Color Health 0 4 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 1 0 5 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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
Natera, Inc. 0 1 0 2 1 0 3 6
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
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 4 0 2 0 0 4 6
Revvity Omics, Revvity 0 3 0 1 0 0 4 5
All of Us Research Program, National Institutes of Health 0 4 0 1 0 0 4 5
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
MGZ Medical Genetics Center 0 1 0 2 0 0 1 3
Fulgent Genetics, Fulgent Genetics 0 1 0 2 0 0 1 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 2 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 2 3
Iberoamerican FH Network 0 4 0 2 0 0 1 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 0 0 3 3
OMIM 0 0 0 1 0 0 1 2
Mendelics 0 0 0 1 0 0 1 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 2 0 0 0 0 2 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 0 0 0 0 2 2
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 1 0 0 0 0 2 2
Baylor Genetics 0 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 0 0 0 0 1 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 0 1 0 0 1 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
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 0 0 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 0 0 0 1 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 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
Genome-Nilou Lab 0 1 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 0 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312 0.00004
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 0.00001
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294 0.00001
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.1327T>C (p.Trp443Arg) rs773566855
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro) rs879255010
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
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.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.768C>A (p.Asp256Glu) rs879254671
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr) rs879254715

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