Impact of variant reclassification on genetic testing yield and clinical outlook in patients with hypertrophic cardiomyopathy.

doi:10.1016/j.ijcard.2026.134718

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Article

Impact of variant reclassification on genetic testing yield and clinical outlook in patients with hypertrophic cardiomyopathy.

International journal of cardiology - 1 Nov 2026

Del Franco Annamaria, Setti Valeria, Colio Federica, Mazzoni Carlotta, Bonacchi Giacomo, Biagioni Giulia, Bonanni Francesca, Giovani Sara, Insinna Eleonora, Ballerini Adelaide, Gozzini Alessia, Zampieri Mattia, Pieroni Maurizio, Cappelli Francesco, Olivotto Iacopo, Girolami Francesca

Abstract excerpt

BACKGROUND: Periodic reinterpretation of variants associated with hypertrophic cardiomyopathy (HCM) is recommended in the light of evolving knowledge, but it requires considerable resources, and its clinical impact is unresolved. OBJECTIVES: We here report the results of a systematic variant reclassification of HCM-associated variants identified at a national referral center, and the impact on clinical profiling....

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PMID: 42571822
DOI: 10.1016/j.ijcard.2026.134718

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