Submissions for variant NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) (rs387906303)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
LDLR-LOVD, British Heart Foundation	RCV000003896	SCV000294882	likely pathogenic	Familial hypercholesterolemia 1	2016-03-25	criteria provided, single submitter	literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000003896	SCV000322910	pathogenic	Familial hypercholesterolemia 1	2016-03-01	criteria provided, single submitter	research	0/190 non-FH alleles; 0/100 healthy control individuals
Robarts Research Institute,Western University	RCV000003896	SCV000484692	likely pathogenic	Familial hypercholesterolemia 1		criteria provided, single submitter	clinical testing
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	RCV000003896	SCV000503207	likely pathogenic	Familial hypercholesterolemia 1	2016-12-16	criteria provided, single submitter	clinical testing	subject mutated among 2600 FH index cases screened = 1 / FH-Portugal
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	RCV000003896	SCV000583719	pathogenic	Familial hypercholesterolemia 1	2017-03-30	criteria provided, single submitter	clinical testing
Fundacion Hipercolesterolemia Familiar	RCV000003896	SCV000607486	pathogenic	Familial hypercholesterolemia 1	2016-03-01	criteria provided, single submitter	research
OMIM	RCV000003896	SCV000024061	pathogenic	Familial hypercholesterolemia 1	1986-10-05	no assertion criteria provided	literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum	RCV000003896	SCV000606193	pathogenic	Familial hypercholesterolemia 1		no assertion criteria provided	research