Is this variant benign or pathogenic?
…
T
T
C
C
T
T
C
T
T
C
A
A
C
T
A
G
A
T
T
A
C
A
G
A
T
C
T
G
C
…
A→G at position 4,922 of 8,192 bases supplied
Reference:
NF1
splice-acceptor variant, pathogenic (
ClinVar 547672
). Same full prompt for every model; DNA shortened here.