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Article

Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre.

Journal of medical genetics - 31 Dec 2024

Horowitz Kayla, Fotopoulos Nellie H, Mistry Alana J, Simo Justin, Medeiros Miranda, Bucco Isabela D, Ginsberg Mia, Dwosh Emily, La Piana Roberta, Rouleau Guy A, Dilliott Allison A, Farhan Sali M K

Abstract excerpt

BACKGROUND: The findings of variants of uncertain significance (VUS) on a clinical genetic testing report pose a challenge for attending healthcare professionals (HCPs) in patient care. Here, we describe the outcomes of multidisciplinary VUS Rounds, implemented at a neurological disease tertiary care centre, which aid in interpreting and communicating VUS identified in our neurogenetics patient population....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39547794
DOI: 10.1136/jmg-2024-110122

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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