Table 2.
Clinical Sanger variants compared to whole‐exome sequencing (WES) variants in 42 adequately covered genes
| Variants | Total variants | Concordant variants (%) | Discordant variants (%) | Number of patients |
|---|---|---|---|---|
| Coding | 150 | 146 (97.3%) | 4b (2.7%) | 21 |
| Intronic (≤20 bp) | 52 | 48 (92.3%) | 4 (7.7%) | 13 |
| Intronic (>20 bp) | 58a | 44 (75.9%) | 13 (22.4%) | 14 |
Genes with less than 75% coverage of more than 20× were excluded, eliminating CCD2D2A, DES, DOK7, EPM2A, FKRP, GAA, KCNC3, LMNA, and RAPSN from comparison.
a
One intronic variant was miscalled by both Sanger and WES by repeat Sanger sequencing; therefore, is neither concordant nor discordant.
b
One discordant coding variant was shown to be a false positive by repeat Sanger sequencing.