ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2312-?_2547+?del

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Total submissions: 2
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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 RCV000497157 SCV000588650 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000497157 SCV000607692 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research

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