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Fig. 1 | Genome Medicine

Fig. 1

From: Taming the genome: towards better genetic test interpretation

Fig. 1

Genetic test interpretation is probabilistic. Variants found through genetic testing are classified as benign, likely benign, uncertain significance, likely pathogenic, or pathogenic. These various classifications fall along a spectrum of likelihood that the variant is disease causing, with benign at one end, pathogenic at the other, and a broad range of uncertainty in the middle. Reproduced with permission from [11]

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