Iacocca, Michael A.Chora, Joana R.Freiberger, TomasCarrie, AlainLeigh, Sarah E.Kurtz, C. LisaTichy, LukasDiStefano, Marina T.Wand, HannahDefesche, JoepSijbrands, Eric J.Hegele, Robert AKnowles, Joshua W.Bourbon, MafaldaOn behalf of the ClinGen FH Variant Curation Expert Panel2019-02-182019-02-182018-06http://hdl.handle.net/10400.18/5875Background: The successes of clinical genetics rely on accurate DNA variant interpretation for the purpose of informing diagnosis and treatment; However, this practice is often rudimentary and differs among diagnostic laboratories, leading to inconsistencies in pathogenicity classification: In response, the Clinical Genome (ClinGen) Resource consortium approves expert panels to recommend disease-specific guidelines to achieve evidence-based, standardized variant curation practice.engFamilial HypercholesterolaemiaDoenças Cardio e Cérebro-vascularesAdaptation of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemiaconference object