Reclassification of Genetic Variants in Patients with Hypertrophic Cardiomyopathy from the Sarcomeric Human Cardiomyopathy Registry (SHaRe)
Sophie Hespe, G. Powell, Laura Catto, Natalie Stewart, Amy Baker, Neesha Krishnan, Lucas A Mitchell, Natasha Henden, Ebony Richardson, Alexandra Butters, Pantazis Theotokis, Rachel Buchan, Kathryn A. McGurk, Brian Lee Claggett, Dominic James Abrams, , Jodie Ingles
The paper reclassifies genetic variants in HCM patients using a large registry, finding 10% of variants were reclassified, with most VUS unlikely to be causal.
Heart Lung and Circulation · Jul 30, 2026Peer-reviewedGenetic & Genomic Medicine