Submissions for variant NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg) (rs745343524)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
LDLR-LOVD, British Heart Foundation	RCV000237295	SCV000295353	uncertain significance	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	RCV000237295	SCV000503330	likely pathogenic	Familial hypercholesterolemia 1	2016-12-16	criteria provided, single submitter	clinical testing	subjects mutated among 2600 FH index cases screened = 7 , family members = 4 with unclear co-segregation in 1 family / FH-Sassari-4/Software predictions: Benign
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	RCV000237295	SCV000583818	pathogenic	Familial hypercholesterolemia 1	2017-03-30	criteria provided, single submitter	clinical testing
Fundacion Hipercolesterolemia Familiar	RCV000237295	SCV000607584	likely pathogenic	Familial hypercholesterolemia 1	2016-03-01	criteria provided, single submitter	research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum	RCV000237295	SCV000606388	pathogenic	Familial hypercholesterolemia 1		no assertion criteria provided	research