ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1510A>G (p.Lys504Glu) (rs730882103)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000237290 SCV000503360 uncertain significance Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1/Software predictions: Benign
Dept. of Genetics and Pharmacogenomics, Merck Research Labs RCV000161990 SCV000189565 not provided not provided no assertion provided in vitro
Fundacion Hipercolesterolemia Familiar RCV000237290 SCV000607606 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
LDLR-LOVD, British Heart Foundation RCV000237290 SCV000295475 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237290 SCV000606446 benign Familial hypercholesterolemia no assertion criteria provided research
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000237290 SCV000583841 pathogenic Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing

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