ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2141-?_2311+?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 RCV000211685 SCV000607681 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211685 SCV000268673 pathogenic Hypercholesterolemia, familial, 1 2012-11-05 no assertion criteria provided clinical testing

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