Table 1 Key definitions

Reinterpretation

Re-evaluation of genetic variants that have been analyzed and interpreted in the past, in order to assess whether the initial classification is still correct or should be changed in light of new information. This may result in an updated and modified report on the data in question by the laboratory to the clinician.

Reclassification

Assigning a different pathogenicity to a variant that has been classified in the past (e.g. from benign to likely pathogenic). In this article, we refer to the classification system described by Richards et al. [27] in which class 1 is benign; class 2 is likely benign; class 3 is variant of uncertain significance; class 4 is likely pathogenic; class 5 is pathogenic.

Adapted from Carrieri et al. 2018