ClinVar Miner

Variants from Cardiovascular Biomarker Research Laboratory, Mayo Clinic with conflicting interpretations

Location: United States  Primary collection method: research
Minimum review status of the submission from Cardiovascular Biomarker Research Laboratory, Mayo Clinic: Collection method of the submission from Cardiovascular Biomarker Research Laboratory, Mayo Clinic:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
0 0 0 12 17 0 13 25

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
Cardiovascular Biomarker Research Laboratory, Mayo Clinic pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 2 0 1 0 0
uncertain significance 5 5 0 7 7
likely benign 2 3 9 0 10

Submitter to submitter summary #

Total submitters: 42
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 0 0 11 6 0 6 23
Labcorp Genetics (formerly Invitae), Labcorp 0 6 0 10 7 0 1 18
Color Diagnostics, LLC DBA Color Health 0 8 0 9 6 0 1 16
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 8 0 7 7 0 1 15
LDLR-LOVD, British Heart Foundation 0 9 0 7 6 0 2 15
GENinCode PLC 0 1 0 7 5 0 0 12
Natera, Inc. 0 7 0 4 6 0 1 11
Illumina Laboratory Services, Illumina 0 6 0 7 3 0 0 10
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 4 0 4 4 0 1 9
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 4 0 4 3 0 1 8
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 6 1 0 1 8
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 3 0 1 1 0 5 7
Fundacion Hipercolesterolemia Familiar 0 5 0 2 3 0 1 6
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 2 0 3 2 0 1 6
Robarts Research Institute, Western University 0 4 0 3 2 0 1 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 1 3 0 2 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 3 1 0 0 4
All of Us Research Program, National Institutes of Health 0 5 0 2 0 0 1 3
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 2 0 1 1 0 1 3
Genome-Nilou Lab 0 2 0 1 2 0 0 3
Iberoamerican FH Network 0 1 0 1 2 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 2 0 1 3
Revvity Omics, Revvity 0 1 0 1 2 0 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 0 1 0 0 1 2
Cohesion Phenomics 0 0 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 2 0 0 1 0 1 2
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 0 0 1 0 0 1 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 3 0 1 1 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 1 0 0 1 2
Institute for Integrative and Experimental Genomics, University of Luebeck 0 1 0 0 0 0 2 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 1 0 0 1 2
3billion 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 1 0 0 0 1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 0 0 1 0 0 0 1
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 1 0 1 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 0 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 0 1 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1060+10G>C rs12710260 0.34072
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr) rs11669576 0.08075
NM_000527.5(LDLR):c.941-4G>A rs116405216 0.00771
NM_000527.5(LDLR):c.2140+5G>A rs72658867 0.00757
NM_000527.5(LDLR):c.1061-8T>C rs72658861 0.00640
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile) rs45508991 0.00495
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00316
NM_000527.5(LDLR):c.1706-10G>A rs17248882 0.00154
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498 0.00138
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln) rs137853963 0.00066
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp) rs150673992 0.00044
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys) rs148698650 0.00038
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp) rs143992984 0.00026
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00025
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00007
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970 0.00007
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile) rs148181903 0.00006
NM_000527.5(LDLR):c.508G>A (p.Asp170Asn) rs139089530 0.00005
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg) rs144614838 0.00003
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778

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