ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1546G>A (p.Gly516Ser) (rs141673997)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211664 SCV000268620 uncertain significance Familial hypercholesterolemia 2008-06-27 no assertion criteria provided clinical testing
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000211664 SCV000503362 likely benign Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 2/Software predictions: Benign
LDLR-LOVD, British Heart Foundation RCV000211664 SCV000295490 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000211664 SCV000606451 benign Familial hypercholesterolemia no assertion criteria provided research
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000211664 SCV000588584 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Robarts Research Institute,Western University RCV000211664 SCV000782918 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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