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	2016-03-25	criteria provided, single submitter	literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000003896	SCV000322910	pathogenic	Familial hypercholesterolemia	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		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	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	2017-03-30	criteria provided, single submitter	clinical testing
Fundacion Hipercolesterolemia Familiar	RCV000003896	SCV000607486	pathogenic	Familial hypercholesterolemia	2016-03-01	criteria provided, single submitter	research
OMIM	RCV000003896	SCV000024061	pathogenic	Familial hypercholesterolemia	1986-10-05	no assertion criteria provided	literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum	RCV000003896	SCV000606193	pathogenic	Familial hypercholesterolemia		no assertion criteria provided	research