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Article

A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel Testing.

Pediatric neurology - 1 Dec 2024

Chourasia Nitish, Vaidya Rohan, Sengupta Soham, Mefford Heather C, Wheless James

Abstract excerpt

BACKGROUND: The interpretation and communication of variant of uncertain significance (VUS) genetic results often present a challenge in clinical practice. VUSs can be reclassified over time into benign/likely benign (B/LB) or pathogenic/likely pathogenic (P/LP) based on the availability of updated data. We evaluate the frequency of VUS reclassification in our tertiary care epilepsy cohort undergoing epilepsy...

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PMID: 39357456
DOI: 10.1016/j.pediatrneurol.2024.09.009

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