ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2390-?_2547+?del

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000211686 SCV000588663 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000211686 SCV000607699 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211686 SCV000268676 pathogenic Hypercholesterolemia, familial, 1 2010-06-15 no assertion criteria provided clinical testing

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