Purpose Genetic testing has advanced significantly since the publication of the 2011
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the …

Recent advances in next-generation sequencing (NGS) have resulted in the identification of
tens of thousands of rare pharmacogenetic variations with unknown functional effects …

Background: Left ventricular (LV) scar on late gadolinium enhancement (LGE) cardiac
magnetic resonance has been correlated with life-threatening arrhythmic events in patients …

According to a rough estimate, one in fifteen people worldwide is affected by a rare disease.
Rare diseases are therefore common in clinical practice; however, timely diagnosis of rare …

Background As the availability of genomic testing grows, variant interpretation will
increasingly be performed by genomic generalists, rather than domain-specific experts …

Many genes, including KCNH2, contain" hotspot" domains associated with a high density of
variants associated with disease. This has led to the suggestion that variant location can be …

BACKGROUND: A pathogenic/likely pathogenic variant can be found in 20% to 25% of
patients with Brugada syndrome (BrS) and a pathogenic/likely pathogenic variant in SCN5A …

Aims A pathogenic/likely pathogenic (P/LP) variant in SCN5A is found in 20–25% of patients
with Brugada syndrome (BrS). However, the diagnostic yield and prognosis of gene panel …

A proper interpretation of the pathogenicity of rare variants is crucial before clinical
translation. Ongoing addition of new data may modify previous variant classifications; …

Modern sequencing technologies have revolutionized our detection of gene variants.
However, in most genes, including KCNH2, the majority of missense variants are currently …