Table 2.
Summary of activities most commonly prompting VUS review as reported by six laboratory representatives.
| Activity | Scale from 1 (least often) to 5 (most often) | Averagea | |||||
|---|---|---|---|---|---|---|---|
| Lab 1 | Lab 2 | Lab 3 | Lab 4 | Lab 5 | Lab 6 | ||
| FCC/clinician contacts the lab for more/updated information | 5 | 1 | 2 | 5 | 5 | 5 | 3.8 |
| The laboratory identifies new evidence (clinical, functional etc.) for a specific variant | 2 | 5 | 4 | 3 | 2 | 2 | 3.0 |
| FCC/clinician provides information to justify variant re-review | 4 | 2 | 1 | 1 | 2 | 4 | 2.3 |
| New classification guidelines/recommendations become available | 3 | 3 | – | 2 | 1 | 3 | 2.0 |
| Regular VUS review as part of the laboratory SOP | 5 | 5 | – | – | – | 1 | 1.8 |
| A new evidence type/algorithm is included in the lab SOP | 1 | 3 | – | 2 | 1 | 2 | 1.5 |
| New ClinVar Expert Panel submissions are available | 2 | 2 | – | 1 | 1 | 3 | 1.5 |
| New ClinVar laboratory or research submissions are available | 1 | – | – | 1 | 1 | 2 | 0.8 |
| The laboratory generates or accesses external research findings | 1 | – | – | – | 1 | 2 | 0.7 |
FCC Familial cancer centre, SOP Standard operating procedures, VUS Variant of uncertain significance.
aThe scale of activities not considered relevant, marked with a “−”, was counted as 0 for average calculations.