… of Medical Genetics and Genomics (ACMG) published in 2015 an … to classify, following ACMG
guidelines, all described variants … Additionally the misfits of ACMG algorithm to classify FH-…

… The type of LDLR-specific alterations we made to the original ACMG/AMP criteria codes
can be categorized into the following: 14 disease-specific/strength-level changes, 13 disease-…

… familial hypercholesterolemia variant curation expert panel (FH-VCEP) was created with the
goal to adapt the guidelines … final FH-VCEP proposed guidelines for standardized FH variant …

Methods: Following review of ACMG/AMP recommendations, … set of FH-ACMG/AMP guidelines,
which focus first on the … types; 2) functional study criteria specifications; 3) alteration of …

… Aim: Familial hypercholesterolemia (FH) is an autosomal … The recent ACMG/AMP
guidelines for standardized variant … Despite such efforts, these existing ACMG/AMP guidelines …

… However, the ACMG/AMP guidelines were designed to be generalizable to all Mendelian
disorders, and ambiguities leave potential for differences in the application of various …

… Since the ACMG guidelines are a very general guideline, ClinGen groups are developing
disease-specific algorithms. The ClinGen FH variant curation expert panel (VCEP) is …

… , ACMG criteria showed a greater ability to predict untreated LDL-C (Padj < 0.001). Carriers
of ACMG-… Conclusions: Our data support the clinical utility of ACMG criteria in the molecular …

… Aim: Familial hypercholesterolaemia (FH) is an autosomal … evidence and application of
ACMG variant interpretation guidelines. … ACMG guidelines were applied to classify all published …

Familial hypercholesterolemia (FH) is the most common monogenic disorder associated with
premature atherosclerotic cardiovascular disease. Early diagnosis and effective treatment …