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
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211613 SCV000268559 pathogenic Familial hypercholesterolemia 2015-09-03 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 RCV000211613 SCV000503145 uncertain significance Familial hypercholesterolemia 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
Dept. of Genetics and Pharmacogenomics, Merck Research Labs RCV000161954 SCV000189529 not provided not provided no assertion provided in vitro
LDLR-LOVD, British Heart Foundation RCV000211613 SCV000294648 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
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

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