ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.320_332del (p.Lys107fs)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237749 SCV000294625 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000237749 SCV000588496 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV000237749 SCV001244710 pathogenic Hypercholesterolemia, familial, 1 2020-01-05 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237749 SCV000606082 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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