ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) (rs146651743)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Integrative and Experimental Genomics,University of Luebeck RCV000172961 SCV000212136 likely benign Familial hypercholesterolemia 1 criteria provided, single submitter research
LDLR-LOVD, British Heart Foundation RCV000172961 SCV000295004 pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000172961 SCV000540763 pathogenic Familial hypercholesterolemia 1 2016-11-05 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000172961 SCV000607507 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Mendelics RCV000172961 SCV001140982 benign Familial hypercholesterolemia 1 2019-05-28 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000172961 SCV000606240 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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