Genetic variant reclassification: a narrative review

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The review highlights the challenges in interpreting genetic variants and communicating findings to patients and healthcare providers.
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A systematic literature review identified 39 studies on variant reclassification, revealing rates ranging from 3.6% to 83.6%.
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Most studies focused on variants of uncertain significance (VUS), with oncology and cardiology being the primary fields of investigation.
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Reclassification methods included literature reviews, functional studies, and machine learning tools, indicating diverse approaches.
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Research gaps include limited understanding in endocrinology and the need for structured processes for reclassification protocols.

Obesity And Endocrinology

by Giuseppina Rosaria Umano, Grazia Cirillo, Anna Di Sessa, Raffaella D’Ausilio, Flavia Guarino, Stella Fusco, Pierluigi Marzuillo, Giulia Rondinelli, Emanuele Miraglia del Giudice
December 30, 2025

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