Systematic re-evaluation of SCN5A variants associated with Brugada syndrome.
Nathan C DenhamCharles Michael PearmanWern Yew DingJohan WaktareDhiraj GuptaRichard SnowdonMark HallRobert CooperSimon ModiDerick ToddSaagar MahidaPublished in: Journal of cardiovascular electrophysiology (2018)
Based on contemporary ACMG-AMP guidelines, only a minority of SCN5A variants implicated in BrS fulfill the criteria for pathogenicity or likely pathogenicity.