Submissions for variant NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
LDLR-LOVD, British Heart Foundation	RCV000237953	SCV000294964	likely benign	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	RCV000237953	SCV000503232	likely benign	Familial hypercholesterolemia 1	2016-12-16	criteria provided, single submitter	clinical testing	subjects mutated among 2600 FH index cases screened = 2 / in association with c.1765G>A, p.Asp589Asn / Software predictions: Benign
Invitae	RCV000775048	SCV000544695	likely benign	Familial hypercholesterolemia	2019-12-31	criteria provided, single submitter	clinical testing
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	RCV000237953	SCV000583738	pathogenic	Familial hypercholesterolemia 1	2017-03-30	criteria provided, single submitter	clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	RCV000237953	SCV000588517	uncertain significance	Familial hypercholesterolemia 1	2016-03-01	criteria provided, single submitter	research
Fundacion Hipercolesterolemia Familiar	RCV000237953	SCV000607499	uncertain significance	Familial hypercholesterolemia 1	2016-03-01	criteria provided, single submitter	research
Robarts Research Institute,Western University	RCV000237953	SCV000782953	uncertain significance	Familial hypercholesterolemia 1	2018-01-02	criteria provided, single submitter	clinical testing
Color Health, Inc	RCV000775048	SCV000909147	uncertain significance	Familial hypercholesterolemia	2019-12-29	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute	RCV000845535	SCV000987649	uncertain significance	not provided		criteria provided, single submitter	clinical testing
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia	RCV000237953	SCV001432577	uncertain significance	Familial hypercholesterolemia 1	2019-03-03	criteria provided, single submitter	research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum	RCV000237953	SCV000606221	pathogenic	Familial hypercholesterolemia 1		no assertion criteria provided	research