ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.464G>A (p.Cys155Tyr) (rs879254536)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238238 SCV000294727 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 RCV000238238 SCV000503164 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 / LDL defective binding / Software predictions: Damaging
Fundacion Hipercolesterolemia Familiar RCV000238238 SCV000607461 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research

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