Figure 2 | Genetics in Medicine

Figure 2

From: Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study

Figure 2

Reported CanSeq germ-line alterations. Of 806 curated germ-line variants, 5% were reported and the remaining 95% were not reported (a). Of reported germ-line variants, 47% were classified as pathogenic, 16% as likely pathogenic, and 37% as variants of unknown significance (b). The genes that harbored reported germ-line variants and their associated American College of Medical Genetics and Genomics classifications are shown (c).

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