Submissions for variant NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
LDLR-LOVD, British Heart Foundation	RCV000237793	SCV000294417	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	RCV000237793	SCV000503092	likely pathogenic	Familial hypercholesterolemia 1	2016-12-16	criteria provided, single submitter	clinical testing	subject mutated among 2600 FH index cases screened = 1, family members =2 with co-segregation / software predictions: conflicting
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	RCV000237793	SCV000583623	pathogenic	Familial hypercholesterolemia 1	2017-03-30	criteria provided, single submitter	clinical testing	ACMG Guidelines: Likely Pathogenic (ii)
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	RCV000237793	SCV000588480	pathogenic	Familial hypercholesterolemia 1	2016-03-01	criteria provided, single submitter	research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum	RCV000237793	SCV000605997	pathogenic	Familial hypercholesterolemia 1		no assertion criteria provided	research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	RCV000237793	SCV000733809	pathogenic	Familial hypercholesterolemia 1		no assertion criteria provided	clinical testing