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You are here: Foswiki>MITOMAP Web>BA1BS1Summary (19 Dec 2024, UnknownUser)Edit Attach
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 | 457 | 457 | 457 | 301 | 185 | 101 | 166 | 146 | 0 |
| BS1 Likely Benign | 236 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 236 |
| BS1 More data needed | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Total | 693 | 457 | 457 | 301 | 185 | 101 | 166 | 146 | 236 |
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Topic revision: r1 - 19 Dec 2024, UnknownUser
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