Table 1.
Proposed Cosegregation Evidence to Support Each ACMG-AMP1 Pathogenicity Evidence Level
Single Family | >1 Family | |
---|---|---|
Strong evidence | ≤1/32 (≤0.03) | ≤1/16 (≤0.06) |
Moderate evidence | ≤1/16 (≤0.06) | ≤1/8 (≤0.125) |
Supporting evidence | ≤1/8 (≤0.125) | ≤1/4 (≤0.25) |
N, probability of observed cosegregation if not pathogenic, totaled over all families (or 1/BF). Note that the strongest evidence level supported by a given N is selected.