ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.352G>T (p.Asp118Tyr) (rs730882080)

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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 RCV000211613 SCV000294648 likely pathogenic 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 RCV000211613 SCV000503145 uncertain significance Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 , family member = 1 with co-segregation / FH-Naple-3 / Software predictions: Conflicting
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000454392 SCV000539518 uncertain significance not specified 2016-10-20 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 3 reports in HGMD, 2 from the same author. Very few probands and no apparent segregation data. Legacy nomenclature D97Y
Dept. of Genetics and Pharmacogenomics, Merck Research Labs RCV000161954 SCV000189529 not provided not provided no assertion provided in vitro
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211613 SCV000268559 pathogenic Familial hypercholesterolemia 1 2015-09-03 no assertion criteria provided clinical testing

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