ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1402G>A (p.Val468Ile) (rs5932)

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Total submissions: 4
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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 RCV000417350 SCV000503343 likely benign Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1(compound heterozygous associated with large rearrnagement) / Software predictions: Conflicting
Color RCV000771545 SCV000904106 likely benign Familial hypercholesterolemias 2018-03-14 criteria provided, single submitter clinical testing
Dept. of Genetics and Pharmacogenomics, Merck Research Labs RCV000161987 SCV000189562 not provided not provided no assertion provided in vitro
GeneDx RCV000161987 SCV000976821 likely benign not provided 2018-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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