Table 1 Number of reclassified variants as per each criterion in both HGMD and ClinVar
HGMD | ||||
Reclassification criteria | DM (167,938 variants) | DM? (19,381 variants) | Total reclassified | |
Criteria1: > = 0.05 (Additional file 1: Table S1) | 22 | 233 | 255 | |
Criteria 2: > = 0.05 in SGP (and < 0.05 in PublicDB) (Additional file 3: Table S3) | 1 | 15 | 16 | |
Criteria 3: > = 0.01 in SGP (at least 1 hom) (Additional file 5: Table S5) | 103 | 504 | 607 | |
Criteria 4: <0.01, hom in SGP, no association with disease (Additional file 7: Table S7) | 107 | 108 | 215 | |
Total = 1093 | ||||
ClinVar | ||||
Reclassification criteria | Pathogenic (37,345 variants) | Likely pathogenic (7914 variants) | Uncertain significance (37,284 variants) | Total reclassified |
Criteria1 > = 0.05 (Additional file 2: Table S2) | 122 | 18 | 194 | 334 |
Criteria 2: > = 0.05 in SGP (and < 0.05 in PublicDB) (Additional file 4: Table S4) | 6 | 0 | 4 | 10 |
Criteria 3: > = 0.01 in SGP (at least 1 hom) (Additional file 6: Table S6) | 184 | 25 | 275 | 484 |
Criteria 4: <0.01, hom in SGP, no association with disease (Additional file 8: Table S8) | 21 | 6 | 43 | 70 |
Total = 898 | ||||