ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1587-?_2140+?del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fundacion Hipercolesterolemia Familiar RCV000211632 SCV000607611 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211632 SCV000268669 pathogenic Hypercholesterolemia, familial, 1 2013-07-10 no assertion criteria provided clinical testing

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