Table 2 The ACMG 2015 classifications of prioritized variants (n [%]).
Human | EVIDENCE | Concordant | Discordant variants | Final candidate variants | |
|---|---|---|---|---|---|
Pathogenic | 50 (26.31) | 55 (28.35) | 50 (92.59) | 4 (7.41) of EVIDENCE | 54 (27.84) |
Likely pathogenic | 69 (36.32) | 67 (34.54) | 67 (97.10) | 2 (2.90) of humans | 69 (35.57) |
Variant of uncertain significance | 71 (37.37) | 72 (37.11) | 71 (100.00) | 0 | 71 (36.60) |
Total | 190 | 194 | 188 (96.91) | 6 (3.09) (2 of humans and 4 of EVIDENCE) | 194 |
