The scary world of variants of uncertain significance (VUS): A hitchhiker's guide to interpretation

J Allergy Clin Immunol. 2021 Feb;147(2):492-494. doi: 10.1016/j.jaci.2020.06.011. Epub 2020 Jun 26.
No abstract available

Keywords: NBS; SCID; Whole-exome sequencing; diagnosis; variants of uncertain significance.

Publication types

  • Editorial
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Female
  • Genetic Testing / methods
  • Genetic Variation*
  • Humans
  • Infant, Newborn
  • Male
  • Neonatal Screening / methods*
  • Severe Combined Immunodeficiency / diagnosis*
  • Severe Combined Immunodeficiency / genetics*