ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2140+5G>A (rs72658867)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000030133 SCV000323107 likely benign Familial hypercholesterolemia 2016-08-31 criteria provided, single submitter research MAF =<0.3%
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000030133 SCV000323002 likely benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 19/745 healthy individuals; 1/75 normolipidemic portuguese controls
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000030133 SCV000503470 benign Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1/Polymorphisme cf whitall et al J Med Genet, 2002
Color RCV000030133 SCV000689773 likely benign Familial hypercholesterolemia 2017-06-22 criteria provided, single submitter clinical testing
Color RCV000771073 SCV000902603 benign Familial hypercholesterolemias 2018-06-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000030133 SCV000733830 likely benign Familial hypercholesterolemia no assertion criteria provided clinical testing
Fundacion Hipercolesterolemia Familiar RCV000030133 SCV000607680 likely benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
GeneDx RCV000614028 SCV000728650 benign not specified 2017-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000030133 SCV000052788 uncertain Familial hypercholesterolemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Invitae RCV000030133 SCV000556791 benign Familial hypercholesterolemia 2018-01-26 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000030133 SCV000295896 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000030133 SCV000606609 benign Familial hypercholesterolemia no assertion criteria provided research
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000030133 SCV000588636 likely benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Robarts Research Institute,Western University RCV000030133 SCV000484792 benign Familial hypercholesterolemia 2019-08-22 criteria provided, single submitter clinical testing

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