ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1637G>A (p.Gly546Asp) (rs28942081)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000003885 SCV000295551 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 RCV000003885 SCV000503379 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 6 , family members = 8 with co-segregation / FH-Saint-Omer, < 2% LDLR Activity / Software predictions: Damaging
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000003885 SCV000583857 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000003885 SCV000588599 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
OMIM RCV000003885 SCV000024050 pathogenic Familial hypercholesterolemia 1 1988-11-01 no assertion criteria provided literature only
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000003885 SCV000268626 pathogenic Familial hypercholesterolemia 1 2011-10-17 no assertion criteria provided clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000003885 SCV000606473 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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