ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) (rs150673992)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148562 SCV000190275 likely benign Hypercholesterolaemia 2014-06-01 no assertion criteria provided research
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000172958 SCV000266312 uncertain significance Familial hypercholesterolemia 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.
Dept. of Genetics and Pharmacogenomics, Merck Research Labs RCV000162019 SCV000189622 not provided not provided no assertion provided in vitro
Institute for Integrative and Experimental Genomics,University of Luebeck RCV000172958 SCV000212133 likely pathogenic Familial hypercholesterolemia criteria provided, single submitter research
LDLR-LOVD, British Heart Foundation RCV000172958 SCV000294952 uncertain significance Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000172958 SCV000606216 benign Familial hypercholesterolemia no assertion criteria provided research
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000172958 SCV000588516 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille RCV000172958 SCV000583735 pathogenic Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing

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