Table 2.
Variants | After Reassessment | ||||||
---|---|---|---|---|---|---|---|
P | LP | VUS | LB | B | Not Categorized | ||
Original | P | 6[Link] | 2 | 0 | 0 | 0 | 0 |
LP | 1 | 6[Link] | 4[Link] | 0 | 0 | 0 | |
VUS | 0 | 0 | 64[Link] , [Link] | 18 | 8 | 0 | |
LB | 0 | 0 | 0 | 2[Link] | 1 | 0 | |
B | 0 | 0 | 0 | 0 | 2[Link] | 0 | |
Not categorized | 0 | 0 | 0 | 2 | 0 | 0 |
Variant classifications at the time of original testing and reclassification after applying current American College of Medical Genetics and Genomics and the Association for Molecular Pathology variant classification criteria. B indicates benign; LB, likely benign; LP, likely pathogenic; P, pathogenic; and VUS, variant of uncertain significance.
Variants that did not change and shaded boxes indicate variant reclassifications.
Four variants reclassified as VUS‐favor pathogenic.
Two VUS‐favor pathogenic.