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Table 2 Diagnostic yield of genetic testing

From: The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic

 

Monogenic disease score

0 (likely complex)

1

2

3

≥ 4 (likely monogenic)

Definite clinical diagnosis

362

121

127

85

67

 Likely pathogenic/pathogenic

82 (23)

40 (33)

77 (61)

58 (68)

50 (75)

 Suspicious VUS

27 (7)

9 (7)

18 (14)

6 (7)

6 (9)

Uncertain clinical diagnosis

32

41

26

12

15

 Likely pathogenic/pathogenic

2 (6)

7 (17)

5 (19)

6 (50)

4 (27)

 Suspicious VUS

3 (9)

3 (7)

0 (0)

0 (0)

1 (7)

Total cohort

394

162

153

97

82

 Likely pathogenic/pathogenic

84 (21)

46 (28)

82 (54)

64 (66)

54 (66)

 Suspicious VUS

30 (8)

12 (7)

18 (12)

6 (6)

7 (9)

  1. Data are shown as n (%) of each score group
  2. VUS variant of uncertain significance