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ClinGenApproved

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 Benign5584734733071909516814785
BS1 Likely Benign17915914744000020
BS1 More data needed90000000016
Total82763262035119095168147121
Topic revision: r1 - 12 Nov 2021, UnknownUser

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