ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1328G>C (p.Trp443Ser) (rs879254866)

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Total submissions: 5
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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 RCV000238264 SCV000503333 likely pathogenic Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 / previously described in association with FH / Software predictions: Damaging
Fundacion Hipercolesterolemia Familiar RCV000238264 SCV000607586 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
LDLR-LOVD, British Heart Foundation RCV000238264 SCV000295369 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238264 SCV000606395 pathogenic Familial hypercholesterolemia no assertion criteria provided research
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000238264 SCV000583821 pathogenic Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing

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