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. Author manuscript; available in PMC: 2020 Sep 1.
Published in final edited form as: Hum Mutat. 2019 Aug 17;40(9):1474–1485. doi: 10.1002/humu.23856

Table 3:

Confusion matrices for all submissions. Disease category contains hypomorph and loss of function variants.

Submission 1.1 Submission 2.1 Submission 4.1
Obs. Disease Obs. Benign Obs. Disease Obs. Benign Obs. Disease Obs. Benign
Pred. Disease 19 16 Pred. Disease 8 6 Pred. Disease 10 2
Pred. Benign 3 0 Pred. Benign 14 10 Pred. Benign 12 14
Submission 4.2 Submission 5.1 Submission 6.1
Obs. Disease Obs. Benign Obs. Disease Obs. Benign Obs. Disease Obs. Benign
Pred. Disease 1 1 Pred. Disease 12 14 Pred. Disease 10 6
Pred. Benign 21 15 Pred. Benign 10 2 Pred. Benign 12 10