Table 1 Final variant interpretation results of cohort probands (n [%]).
Final | Human | EVIDENCE | Concordant probands | Discordant probands | |
|---|---|---|---|---|---|
Number of probands with prioritized variants | 136 (51.71) | 132 (50.19) | 134 (50.95) | 130 (95.59) | 2 by human, 4 by EVIDENCE |
Inheritance | |||||
Autosomal recessive | 83 | 83 | 81 | 81 | 2 |
Autosomal dominant | 51 | 47 | 51 | 47 | 4 |
mitochondrial | 1 | 1 | 1 | 1 | 0 |
X-linked | 1 | 1 | 1 | 1 | 0 |
Not found | 127 (48.29) | 131 (49.81) | 129 (49.05) | 127 (100) | 0 |
Total | 263 | 263 | 263 | 257 (97.72) | 6 (2.28) |
