ABOUT THIS SITE
This website provides curated access to Cardio‑SM (Cardio‑Specifications Matcher), a decision support tool aimed to promote the standardization of variant interpretation and disseminate knowledge.
Cardio‑SM applies the ACMG/AMP guidelines (Richard et al., 2015) incorporating the ClinGen Cardio VCEP Specifications, released in April 2024.
By prompting the users to input relevant data and/or respond to targeted conceptual questions, this tool comprehensively guides them through the ACMG/AMP criteria assignment process in the context of HCM.
Supported Genes: MYH7, MYBPC3, TNNI3, TNNT2, TPM1, ACTC1, MYL2, MYL3 on MANE SELECTED
ABOUT THE TEAM
Cardio SM was developed as part of academic and training activities at the Department of Clinical and Molecular Medicine, Sapienza University of Rome, and the Laboratory of Medical Genetics, Sant’Andrea University Hospital (AOU Sant’Andrea).
Scientific coordinator: Dr. Maria Piane
Developers: Dr. Marco Fabiani, Dr. Silvia Caroselli
Collaborators: Simona Petrucci, Aldo Germani, Camilla Savio, Caterina Micolonghi, Stefania Bragliola, Valeria Maselli, Fabio Libi, Laura Alesi, Ilaria De Santis, Carla Rossi