P702: Impact of variant reclassification: Insights from Greenwood Genetic Center
Genetic testing is essential for diagnosing and treating patients, with variant classification being a critical component of this process. Variant reclassification can challenge diagnostic accuracy over time. This study aims to evaluate the impact of variant reclassification by analyzing data for reclassification requests received by the Greenwood Genetic Center (GGC) from external and internal institutions.
Authors
- Fatima Abidi
- Michael J. Friez
- Julie R. Jones (ORCID: https://orcid.org/0000-0001-7704-7091)
- Raymond J. Louie (ORCID: https://orcid.org/0000-0002-6788-1151)
- Raymond Caylor (ORCID: https://orcid.org/0000-0003-1067-2807)
- Xuemei Shi
- Jennifer Jooha Lee (ORCID: https://orcid.org/0000-0001-6873-6629)
Institutions
- Greenwood Genetic Center (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103071
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00