Sample of survey results on working methods for variant collection and classification from laboratory directors
| Question | Laboratory directors only | Total |
|---|---|---|
| (C2) Use formal tracking system for variants in the literature | Yes: 9 (56%) No: 7 (44%) n=16 | Yes: 11 (46%) No: 13 (54%) n=24 |
| (C5) Use the the American College of Medical Genetics (ACMG) system for classifying sequence variants | Yes: 10 (67%) No: 5 (33%) n=15 | Yes: 12 (63%) No: 7 (37%) n=19 |
| (C6) Laboratory uses consistent set of terms for classification | Yes: 11 (69%) No: 5 (31%) n=16 | Yes: 13 (65%) No: 7(35%) n=20 |
| (C11) Laboratory has written rules for evidence-based classification of variants | Yes: 6 (40%) No: 9 (60%) n=15 | Yes: 8 (40%) No: 12 (60%) n=20 |
| (C19) Variant data are linked to all patients with particular variant | Yes: 9 (69%) No: 4 (31%) n=13 | Yes: 12 (67%) No: 6 (33%) n=18 |
| (C21) Variant data are linked to disease type | Yes: 8 (62%) No: 5 (38%) n=13 | Yes: 11 (61%) No: 7 (39%) n=18 |
| (C23) Maintains database tracking individuals with particular variant | Yes: 11 (73%) No: 3 (20%) DK: 1 (7%) n=15 | Yes: 15 (68%) No: 6 (27%) DK: 1 (5%) n=22 |
| (C24) Maintains database tracking families associated with particular variant | Yes: 7 (47%) No: 8 (53%) n=15 | Yes: 12 (55%) No: 10 (45%) n=22 |
Percentages are based on the total number of responses received per question. Question numbers are stated in brackets. For complete survey questions and results see online supplementary appendix 3. For each question, the majority response has been bolded.
DK: don't know.