ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.313+5G>A (rs879254467)

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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 RCV000237372 SCV000503136 likely pathogenic Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 4/FH-Europe
Fundacion Hipercolesterolemia Familiar RCV000237372 SCV000607445 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
LDLR-LOVD, British Heart Foundation RCV000237372 SCV000294610 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000237372 SCV000588494 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research

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