ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000211703 SCV000294395 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000211703 SCV000540711 likely benign Familial hypercholesterolemia 1 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.
Fundacion Hipercolesterolemia Familiar RCV000211703 SCV000607395 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color RCV001190436 SCV001357925 uncertain significance Familial hypercholesterolemia 2019-06-13 criteria provided, single submitter clinical testing
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211703 SCV000268529 pathogenic Familial hypercholesterolemia 1 2015-04-17 no assertion criteria provided clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000211703 SCV000605987 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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