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. Author manuscript; available in PMC: 2020 Apr 16.
Published in final edited form as: Pediatr Res. 2019 Oct 16;87(4):735–739. doi: 10.1038/s41390-019-0611-5

Table 1.

Summary of CES Dataset (N = 523).

# of Patients % of all Patients
Pathogenic or likely pathogenic variant 158 30%
Two pathogenic/likely pathogenic variants 21 4%
Pathogenic/likely pathogenic variant + >1 VUS 54 10%
No pathogenic/likely pathogenic variant 398 76%
No pathogenic/likely pathogenic variant but >1 VUS 190 36%
No pathogenic/likely pathogenic variant and no VUS, but >1 GUS 53 10%
No pathogenic/likely pathogenic variant but >1 VUS or GUS 243 46%
Patients with at least 1 VUS 244 47%
Patients with 2 or more VUS 94 18%
Total VUS Identified 370
Patients with at least 1 GUS 116 22%
Patients with 2 or more GUS 23 4%
Total GUS Identified 158 30%
Patients with no pathogenic, likely pathogenic, VUS or GUS variants reported 120 23%