The pathogenicity classifications of MEFV, MVK, NLRP3 and TNFRSF1A gene variants
| Genes | Variants | Classification | Total variants with classification | Classification validated | Classification provisional | Classification unsolved |
| N | N (%) | N (%) | N (%) | N (%) | ||
| MEFV | 316 | Pathogenic | 5 (1.6) | 5 (1.6) | ||
| Likely pathogenic | 48 (30.4) | 23 (7.3) | 25 (7.9) | |||
| VOUS | 96 (30.4) | 52 (16.5) | 44 (13.9) | |||
| Likely benign | 120 (38.0) | 86 (27.2) | 34 (10.8) | |||
| Benign | 10 (3.2) | 10 (3.2) | ||||
| Unsolved | 37 (12.0) | |||||
| 279 (88.3) | 176 (55.7) | 103 (32.6) | 37 (12.0) | |||
| MVK | 201 | Pathogenic | 51 (25.4) | 51 | ||
| Likely pathogenic | 81 (40.3) | 69 (34.3) | 12 (6.0) | |||
| VOUS | 21 (10.4) | 14 (7.0) | 7 (3.5) | |||
| Likely benign | 32 (15.9) | 30 (14.9) | 2 (1.0) | |||
| Benign | 4 (2.0) | 4 (2.0) | ||||
| Unsolved | 12 (6.0) | |||||
| 189 (94.0) | 168 (83.6) | 21 (10.4) | 12 (6.0) | |||
| NLRP3 | 194 | Pathogenic | 19 (9.8) | 19 (9.8) | ||
| Likely pathogenic | 77 (39.7) | 61 (31.4) | 16 (8.2) | |||
| VOUS | 39 (20.1) | 32 (16.5) | 7 (3.6) | |||
| Likely benign | 36 (18.6) | 35 (18.0) | 1 (0.5) | |||
| Benign | 17 (8.8) | 16 (8.2) | 1 (0.5) | |||
| Unsolved | 6 (3.0) | |||||
| 188 (96.9) | 163 (84.0) | 25 (12.9) | 6 (3.0) | |||
| TNFRSF1A | 147 | Pathogenic | 44 (29.9) | 44 (29.9) | ||
| Likely pathogenic | 54 (36.7) | 38 (25.9) | 16 (10.9) | |||
| VOUS | 14 (9.5) | 9 (6.1) | 5 (3.4) | |||
| Likely benign | 34 (23.1) | 33 (22.4) | 1 (0.7) | |||
| Benign | 1 (0.7) | 1 (0.7) | ||||
| Unsolved | 0 (0.0) | |||||
| 147 (100.0) | 125 (85.0) | 22 (15.0) | 0 (0.0) | |||
| All genes | 858 | Pathogenic | 119 (13.9) | 119 (13.9) | 0 (0.0) | |
| Likely pathogenic | 260 (30.3) | 191 (22.3) | 69 (8.0) | |||
| CVOUS | 170 (19.8) | 107 (12.5) | 63 (7.3) | |||
| Likely benign | 222 (25.9) | 184 (21.4) | 38 (4.4) | |||
| Benign | 32 (3.7) | 31 (3.6) | 1 (0.1) | |||
| Unsolved | 55 (6.4) | |||||
| 803 (93.6) | 632 (73.7) | 171 (19.9) | 55 (6.4) |
VOUS, variant of uncertain significance.