Skip to main content
Fig. 2 | Genome Medicine

Fig. 2

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

Fig. 2

VUSs With Variant Classification changes. A Patients with reclassification of CNVs from each of the categories. 52 CNVs of uncertain significance were reclassified as benign, 60 as likely benign, 5 as likely pathogenic, and 7 as pathogenic. B Cumulative reclassification rate plotted as the cumulative fraction of reclassified variants for each year. Testing was calculated using either only pathogenic and likely pathogenic CNVs (blue line) or all reclassified CNVs (red line). The extrapolated slopes for the change in VUS classification are 4.2% per year and 0.4% respectively. This linear distribution means that reanalysis rate is constant every year. The R2 and slope values were calculated using linear regression

Back to article page