ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.828C>A (p.Cys276Ter) (rs146651743)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fundacion Hipercolesterolemia Familiar RCV000172961 SCV000607507 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Institute for Integrative and Experimental Genomics,University of Luebeck RCV000172961 SCV000212136 likely benign Familial hypercholesterolemia criteria provided, single submitter research
LDLR-LOVD, British Heart Foundation RCV000172961 SCV000295004 pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000172961 SCV000606240 pathogenic Familial hypercholesterolemia no assertion criteria provided research
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000172961 SCV000540763 pathogenic Familial hypercholesterolemia 2016-11-05 criteria provided, single submitter clinical testing

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