ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1066G>T (p.Asp356Tyr) (rs767767730)

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Total submissions: 4
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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 RCV000211697 SCV000268598 pathogenic Familial hypercholesterolemia 2011-12-05 no assertion criteria provided clinical testing
Fundacion Hipercolesterolemia Familiar RCV000211697 SCV000607557 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
LDLR-LOVD, British Heart Foundation RCV000211697 SCV000295197 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000211697 SCV000606316 pathogenic Familial hypercholesterolemia no assertion criteria provided research

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