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Table 3 Evidence strength equivalent of odds of pathogenicity

From: Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Odds of pathogenicity (OddsPath)

Evidence strength equivalent

< 0.053

BS3

< 0.23

BS3_moderate*

< 0.48

BS3_supporting

0.48–2.1

Indeterminate

> 2.1

PS3_supporting

> 4.3

PS3_moderate

> 18.7

PS3

> 350

PS3_very_strong

  1. *Since there are no moderate strength benign evidence codes included in the Richards et al.’s guidance, moderate level evidence is equivalent to two instances of supporting-level benign evidence [18]
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Genome Medicine

ISSN: 1756-994X

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