Summary of Variants Meeting ClinGen-Approved Frequency Criteria for BA1 and BS1
| Category | Count | >0.5% in at least 1 db |
>0.5% in Mitomap or gnomAD |
>0.5% in Helix | >1% in all 3 db |
>2% in all 3 db |
>2% AVERAGE AF | >2% AVERAGE AF + >1% in all 3 db |
Disease Reported |
|---|---|---|---|---|---|---|---|---|---|
| BA1 Benign | 558 | 473 | 473 | 307 | 190 | 95 | 168 | 147 | 85 |
| BS1 Likely Benign | 179 | 159 | 147 | 44 | 0 | 0 | 0 | 0 | 20 |
| BS1 More data needed | 90 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 16 |
| Total | 827 | 632 | 620 | 351 | 190 | 95 | 168 | 147 | 121 |
Copyright © by the contributing authors. All material on this collaboration platform is the property of the contributing authors. Ideas, requests, problems regarding Foswiki? Send feedback