The ACMG's Five-Teared Scale - Pathogenic or Not?

Both teams started with a big picture approach, using bioinformatics tools to scan the genomes for rare variants. These alone are not a reason for concern or a sign of disease. The Sydney team found 279 among the five Follbig's. By filtering for genes linked to cardiac diseases, respiratory disorders or sudden death, they whittled the list down to just nine. Within that list was the variant in Calm 2 that VINU-SAR had identified. It was present in Follbig and her two daughters, Laura and Sarah. But when the teams issued their reports in March 2019, they differed in how they classified the rare variants. Although the Canberra team suggested both the