Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study

ConclusionsThis study ’s high rate of reinterpretation suggests that CNV interpretation has rapidly evolved since 2010, thanks to the continuous enrichment of available databases. The reinterpreted CNV explained the phenotype for ten patients, leading to optimal genetic counseling. These findings suggest that CNVs sho uld be reinterpreted at least every 2 years.

http://link.springer.com/10.1186/s13073-023-01191-6

Source: Genome Medicine - May 23, 2023 Category: Genetics & Stem Cells Source Type: research