Table 4 Step C: selection of standard variant comment based on combined class.
From: Stepwise ABC system for classification of any type of genetic variant
Class | Examples of standard comments |
|---|---|
0 | Normal findings |
F | Normal findings—no pathogenic or likely pathogenic variants detected |
F/E | Normal findings—no pathogenic variants that could be related to the phenotype were detected |
E/D | Normal findings—no pathogenic variants that could explain the phenotype were detected |
E/D | Genetic variant of potential interest detected |
E/D | Heterozygosity for a recessive genetic variant of potential interest detected |
D | A genetic variant that increases susceptibility for this phenotype was detected |
C/B/A | Disease-associated pathogenic variant detected (+/− penetrance, if known) |
X | Genetic variant unrelated to the clinical question detected |
