ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2312-?_*2514del

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256303 SCV000323007 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000256303 SCV000588651 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000256303 SCV000607693 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research

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