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. 2019 Oct 23;2(10):e1913900. doi: 10.1001/jamanetworkopen.2019.13900

Figure 4. Distribution of Variants Likely Pathogenic (VLP) and Variants of Uncertain Significance (VUS) in a Multigene Panel Testing Cohort.

Figure 4.

A, In a cohort of 307 812 patients receiving multigene panel testing, 3065 individuals were identified with 894 unique VLPs, and 52 831 individuals were identified with 15 859 unique VUS in the following genes: APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2, CDH1, MLH1, MSH2, MSH6, PMS2, MUTYH, NF1, PTEN, PALB2, RAD51C, RAD51D, TP53. A total of 7265 individuals (2.4%) were carriers for variants predicted to affect splicing. B, Distribution of VLP and VUS in the studied cohort. Variants predicted to affect splicing accounted for 485 VLPs (54%) and 1672 VUS (11%).