ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.139G>A (p.Asp47Asn) (rs778284147)

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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 RCV000238312 SCV000294483 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 RCV000238312 SCV000503104 uncertain significance Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 / FH-Hyogo / Software predictions: Damaging
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000238312 SCV000588486 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238312 SCV000606024 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research
Iberoamerican FH Network RCV000238312 SCV000748172 uncertain significance Familial hypercholesterolemia 1 2016-03-01 no assertion criteria provided research

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