Fig. 3: Clinical relevance of clinical genome sequencing (cGS) molecular diagnoses and suspicious variant of uncertain significance (VUS) results. Each variant identified by cGS was reviewed for clinical relevance by the research team and referring clinical provider. | Genetics in Medicine

Fig. 3: Clinical relevance of clinical genome sequencing (cGS) molecular diagnoses and suspicious variant of uncertain significance (VUS) results. Each variant identified by cGS was reviewed for clinical relevance by the research team and referring clinical provider.

From: Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test

Fig. 3: Clinical relevance of clinical genome sequencing (cGS) molecular diagnoses and suspicious variant of uncertain significance (VUS) results. Each variant identified by cGS was reviewed for clinical relevance by the research team and referring clinical provider.

Column 1 is the number of individuals with a pathogenic/ likely pathogenic variant(s) or variant(s) of uncertain significance. Column 2 is the number of molecular diagnoses. Column 3 is an assessment of the degree to which the variant(s) identified explains patient features. Column 4 is an assessment of additional clinical workup needed to assess the significance of the variant(s) identified. Column 5 is the case identification number and corresponding gene of interest.

Back to article page