ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000211664 SCV000295490 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
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 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 2/Software predictions: Benign
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000211664 SCV000588584 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Robarts Research Institute,Western University RCV000211664 SCV000782918 likely benign Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000996754 SCV001151662 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Color RCV001177035 SCV001341145 uncertain significance Familial hypercholesterolemia 2018-11-04 criteria provided, single submitter clinical testing
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211664 SCV000268620 uncertain significance Familial hypercholesterolemia 1 2008-06-27 no assertion criteria provided clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000211664 SCV000606451 benign Familial hypercholesterolemia 1 no assertion criteria provided research

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