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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 Jang
Published 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.
Keyphrases
  • copy number
  • genome wide
  • clinical practice
  • dna methylation
  • transcription factor
  • genome wide identification