ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2093G>A (p.Cys698Tyr) (rs879255136)

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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 RCV000237199 SCV000295867 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000237199 SCV000540859 likely pathogenic Familial hypercholesterolemia 2016-11-05 criteria provided, single submitter clinical testing Disrupt disulfide bridge between Cys698 and Cys711.
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000237199 SCV000588633 likely pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000237199 SCV000607674 likely pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research

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