Table 1 Reclassification outcomes of ClinVar P//LP variants with an allele frequency greater than 0.005a.
From: Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades
Reclassification, n (%) | B/LB/VUS | P/LP | Risk factor | All | ||
|---|---|---|---|---|---|---|
Characteristic | B/LB | VUS | Total | |||
All | 46 (21) | 41 (19) | 87 (40) | 126 (58) | 5 (2) | 217 (100) |
Maximal allele frequency | ||||||
[0.005. 0.01) | 2 (2) | 22 (21) | 24 (23) | 80 (76) | 1 (1) | 105 (100) |
[0.01, 0.05) | 19 (22) | 18 (21) | 37 (44) | 45 (53) | 3 (4) | 85 (100) |
[0.05, 1) | 25 (93) | 1 (4) | 26 (96) | 0 (0) | 1 (4) | 27 (100) |
Collection method | ||||||
Clinical testing | 11 (9) | 9 (8) | 20 (17) | 95 (81) | 2 (2) | 117 (100) |
Literature only | 22 (29) | 26 (34) | 48 (63) | 25 (33) | 3 (4) | 76 (100) |
Research | 8 (57) | 4 (29) | 12 (86) | 2 (14) | 0 (0) | 14 (100) |
Reference population | 0 (0) | 2 (40) | 2 (40) | 3 (60) | 0 (0) | 5 (100) |
Case-control | 2 (100) | 0 (0) | 2 (100) | 0 (0) | 0 (0) | 2 (100) |
Not provided | 3 (100) | 0 (0) | 3 (100) | 0 (0) | 0 (0) | 3 (100) |
Last evaluated (year) | ||||||
2014 and earlier | 17 (28) | 23 (38) | 40 (67) | 18 (30) | 2 (3) | 60 (100) |
2015–2019 | 19 (13) | 14 (10) | 33 (23) | 107 (75) | 3 (2) | 143 (100) |
Unspecified | 10 (71) | 4 (29) | 14 (100) | 0 (0) | 0 (0) | 14 (100) |
Review status | ||||||
0 star | 42 (41) | 30 (29) | 72 (71) | 27 (26) | 3 (3) | 102 (100) |
1 star | 4 (8) | 11 (22) | 15 (31) | 34 (69) | 0 (0) | 49 (100) |
2 stars | 0 (0) | 0 (0) | 0 (0) | 64 (97) | 2 (3) | 66 (100) |
