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Table 2 Validation of the sensitivity of the multi-gene panel – analysis of known germline mutations, benign variants and VUS

From: Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

Group of variants Identified by Sanger sequencing Validated in gene panel Sensitivity (%) No. of Patients
Known pathogenic mutations 54 53a 98 63
Benign variants and VUS 206 206 100 80
All 260 259 99.6 120
  1. a Non validated variant
  2. STK11:c.907_915del9;p.Ile303_Gln305del (coverage = 1)
  3. VUS = variant of uncertain significance