ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.757C>T (p.Arg253Trp) (rs150673992)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Integrative and Experimental Genomics,University of Luebeck RCV000172958 SCV000212133 likely pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter research
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000172958 SCV000266312 uncertain significance Familial hypercholesterolemia 1 2016-08-31 criteria provided, single submitter research MAF =<0.3%, likely pathogenic based on the integrative in-silico score. "Little/No effect" on the LDL receptor activity based on experimental validation.
LDLR-LOVD, British Heart Foundation RCV000172958 SCV000294952 uncertain significance Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000172958 SCV000583735 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000172958 SCV000588516 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Invitae RCV001085872 SCV001001882 likely benign Familial hypercholesterolemia 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000162019 SCV001151652 likely benign not provided 2017-04-01 criteria provided, single submitter clinical testing
Dept. of Genetics and Pharmacogenomics, Merck Research Labs RCV000162019 SCV000189622 not provided not provided no assertion provided in vitro
CSER _CC_NCGL, University of Washington RCV000148562 SCV000190275 likely benign Hypercholesterolaemia 2014-06-01 no assertion criteria provided research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000172958 SCV000606216 benign Familial hypercholesterolemia 1 no assertion criteria provided research

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