Table 4.
Number and percent of individuals falling into various diagnostic categories for data-rich variants.
| Variant | n * | Studies (n) | Number (%) Included Using Diagnostic Thresholds * | ||||
|---|---|---|---|---|---|---|---|
| <30% | <60% | <70% | <80% | ≥80% | |||
| A-(202A) c.376A>G + c.202G>A | |||||||
| Hemi-/Homozygous | 67 | 6 | 37 (55.2) | 64 (95.5) | 65 (97.0) | 67 (100.0) | 0 (0.0) |
| Heterozygous | 113 | 4 | 3 (2.7) | 29 (25.7) | 52 (46.0) | 67 (59.3) | 46 (40.7) |
| Mahidol c.487G>A | |||||||
| Hemi-/Homozygous | 201 | 5 | 200 (99.5) | 201 (100.0) | 201 (100.0) | 201 (100.0) | 0 (0.0) |
| Heterozygous | 381 | 7 | 56 (14.7) | 235 (61.7) | 296 (77.7) | 337 (88.5) | 44 (11.5) |
| Mediterranean c.563C>T | |||||||
| Hemi-/Homozygous | 45 | 3 | 45 (100.0) | 45 (100.0) | 45 (100.0) | 45 (100.0) | 0 (0.0) |
| Heterozygous | 7 | 4 | 1 (14.3) | 5 (71.4) | 5 (71.4) | 6 (85.7) | 1 (14.3) |
| Vanua Lava c.383T>C | |||||||
| Hemi-/Homozygous | 36 | 3 | 36 (100.0) | 36 (100.0) | 36 (100.0) | 36 (100.0) | 0 (0.0) |
| Heterozygous | 140 | 3 | 18 (12.9) | 91 (65.0) | 119 (85.0) | 139 (99.3) | 1 (0.7) |
| Viangchan c.871G>A | |||||||
| Hemi-/Homozygous | 135 | 6 | 135 (100.0) | 135 (100.0) | 135 (100.0) | 135 (100.0) | 0 (0.0) |
| Heterozygous | 160 | 6 | 19 (11.9) | 109 (68.1) | 141 (88.1) | 160 (100.0) | 0 (0.0) |
* Excludes outlier measurements.