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 | 461 | 461 | 461 | 302 | 184 | 101 | 166 | 146 | 0 |
| BS1 Likely Benign | 162 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 162 |
| BS1 More data needed | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Total | 623 | 461 | 461 | 302 | 184 | 101 | 166 | 146 | 162 |
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