(A) | |||

Evidence strength | Odds of pathogenicity | Exponent score | |

Very Strong (VS) | 350 | 2.08^{8} | 8 |

Strong (S) | 18.7 | 2.08^{4} | 4 |

Moderate (M) | 4.33 | 2.08^{2} | 2 |

Supporting (P) | 2.08 | 2.08^{1} | 1 |

(B) | ||||

Classification category | Prior probability | Combined odds of pathogenicity | Exponent sum | Posterior probability |

Pathogenic | 0.1 | 1514 (2.08^{+10}) | ≥10 | 0.99 |

Likely pathogenic | 81 (2.08^{+6}) | 6–9 | 0.90 | |

Likely benign | 0.48 (2.08^{−1}) | (−1)−(−5) | 0.05 | |

Benign | 0.01 (2.08^{−6}) | ≤−6 | 0.001* |

*The posterior probability attained with an exponent sum of −6 has been rounded down to 0.001, consistent with the UK Association for Clinical Genomic Science Best Practice Guidelines for Variant Classification in Rare Disease 2020.4