ClinVar Miner

Variants in gene combination LDLR, MIR6886

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
21 4 4 4 4 31

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial hypercholesterolemia 19 2 4 3 4 27
Familial hypercholesterolemias 3 1 0 0 0 4
Familial hypercholesterolemia - homozygous 1 1 0 0 0 2
Hypercholesterolaemia 1 0 0 0 0 1
not specified 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
LDLR-LOVD, British Heart Foundation 10 2 0 3 1 16
Invitae 8 1 0 0 1 10
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 4 0 0 0 0 4
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 1 0 0 0 3 4
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 0 1 0 2 3
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 2 0 1 3
Fundacion Hipercolesterolemia Familiar 2 0 1 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 2
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 2 0 0 0 0 2
OMIM 1 0 0 0 0 1
PreventionGenetics,PreventionGenetics 0 0 0 1 0 1
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1 0 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 1 0 0 0 0 1
Institute for Integrative and Experimental Genomics,University of Luebeck 0 1 0 0 0 1
Color 1 0 0 0 0 1
Robarts Research Institute,Western University 0 1 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 1 0 0 0 0 1
Iberoamerican FH Network 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 0 0 1

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