Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience
From this study, we demonstrated that iterative reanalysis of VUS is crucial in clinical practice as new data and evidence become available. This dynamic process will significantly improve diagnostic accuracy and inform patient care decisions.
Authors
- Sylvia Keigwin (ORCID: https://orcid.org/0000-0001-8366-9655)
- Nurhaziqah Supari
- Seiko Makino (ORCID: https://orcid.org/0000-0001-7549-7689)
- Duncan Baker (ORCID: https://orcid.org/0000-0002-6475-8246)
- Shawn Delaney
Institutions
- Sheffield Children's NHS Foundation Trust (GB)
- Sheffield Children's Hospital (GB)
- University of Sheffield (GB)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2026-02-10
- DOI
- https://doi.org/10.1136/jmg-2025-111334
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00