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Classification of identified variants by ACMG guidelines.
| Total (n = 37) | COL2A1 (n = 30) | COL11A1 (n = 7) | ||
|---|---|---|---|---|
| ACMG classification |
PV (%) | 12 (32) | 12 (40) | 0 (0) |
| LPV (%) | 15 (41) | 13 (43) | 2 (29) | |
| VUS (%) | 10 (27) | 5 (17) | 5 (71) | |
| Novel variants (%) | 17 (46) | 12 (40) | 5 (71) | |
