I.86
Item
Date of genetic diagnostics
date
I.87
Item
genetical findings
text
Item
Type of genetical diagnosis
text
Code List
Type of genetical diagnosis
CL Item
gene panel analysis (3)
CL Item
single gene testing (4)
Item
Genetic result classification
text
Code List
Genetic result classification
CL Item
pathogenic mutation/ variation (1)
CL Item
likely pathogenic mutation/ variation (2)
CL Item
variant of unknown significance (VUS) (3)
CL Item
likely benign variant (4)
CL Item
benign variant (5)
I.90
Item
please specify genetic result
text
Item
Genetic family tree available
text
Code List
Genetic family tree available
Item
Other family members with genetical findings
text
Code List
Other family members with genetical findings
I.93
Item
Number of affected individuals
integer