Table 1 Summary of the results of the survey

Facilities to which questionnaires were sent

997

Facilities that responded (%)

791 (79%)

Facilities where patients were reported

35

 1 Patient

26

 2 Patients

5

 3 Patients

2

 5 Patients

1

 8 Patients

1

Total patients reported

55

 Male

49

 Female

6

Number of patients with primary mutations

 11,778

45

 14,484

8

 3460

0

Number of patients with rare mutations

 11,696

1

 11,281

1