Submissions for variant NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
LDLR-LOVD, British Heart Foundation	RCV000211664	SCV000295490	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	RCV000211664	SCV000503362	likely benign	Familial hypercholesterolemia 1	2016-12-16	criteria provided, single submitter	clinical testing	subjects mutated among 2600 FH index cases screened = 2/Software predictions: Benign
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	RCV000211664	SCV000588584	uncertain significance	Familial hypercholesterolemia 1	2016-03-01	criteria provided, single submitter	research
Robarts Research Institute,Western University	RCV000211664	SCV000782918	likely benign	Familial hypercholesterolemia 1	2018-01-02	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000996754	SCV001151662	uncertain significance	not provided	2018-06-01	criteria provided, single submitter	clinical testing
Color	RCV001177035	SCV001341145	uncertain significance	Familial hypercholesterolemia	2018-11-04	criteria provided, single submitter	clinical testing
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital	RCV000211664	SCV000268620	uncertain significance	Familial hypercholesterolemia 1	2008-06-27	no assertion criteria provided	clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum	RCV000211664	SCV000606451	benign	Familial hypercholesterolemia 1		no assertion criteria provided	research