ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.-120C>T (rs875989886)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211703 SCV000268529 pathogenic Familial hypercholesterolemia 2015-04-17 no assertion criteria provided clinical testing
Fundacion Hipercolesterolemia Familiar RCV000211703 SCV000607395 likely pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
LDLR-LOVD, British Heart Foundation RCV000211703 SCV000294395 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000211703 SCV000605987 pathogenic Familial hypercholesterolemia no assertion criteria provided research
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000211703 SCV000540711 likely benign Familial hypercholesterolemia 2017-03-27 criteria provided, single submitter clinical testing A functional analysis was previously published (Francova et al, 2004). Only 3% of activity in comparing with wt promoter.

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