ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237508 SCV000295111 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000237508 SCV000540777 likely pathogenic Familial hypercholesterolemia 1 2016-11-05 criteria provided, single submitter clinical testing Disrupt disulfide bridge between Cys318 and Cys329.
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000237508 SCV000588535 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000237508 SCV000607537 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color RCV001176043 SCV001339860 pathogenic Familial hypercholesterolemia 2019-01-31 criteria provided, single submitter clinical testing

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