Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines.
Eungjun YoonJong Kwon LeeTaek Kyu ParkSung-A ChangJune HuhJong Kwon LeeDuk-Kyoung KimJa Hyun JangPublished in: Journal of medical genetics (2023)
-specific guideline and up-to-date database, a significant number of VUS was reclassified. Clinical laboratories are encouraged to perform variant reassessment at regular intervals or when there is a major change in the principle of variant interpretation.