Re‐evaluation of missense variant classifications in NF2
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24370
Abstract: Missense variants in the NF2 gene result in variable NF2 disease presentation. Clinical classification of missense variants often represents a challenge, due to lack of evidence for pathogenicity and function. This study provides a summary… read more here.
Keywords: missense; variant classifications; pathology; missense variants ... See more keywords
Is there a duty to routinely reinterpret genomic variant classifications?
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Medical Ethics"
DOI: 10.1136/jme-2022-108864
Abstract: Multiple studies show that periodic reanalysis of genomic test results held by clinical laboratories delivers significant increases in overall diagnostic yield. However, while there is a widespread consensus that implementing routine reanalysis procedures is highly… read more here.
Keywords: routinely reinterpret; reanalysis; variant classifications; genomic variant ... See more keywords