Fig. 02 · Interactive reasoning lesson01 / 06
Genomic Variant
Interpretation
A reasoning pathway from phenotype to clinical meaning.
01
Fig. 02 · 02 / 06
Phenotype
The clinical picture comes first.
A variant only becomes meaningful when it is interpreted in the context of the patient.
the variant must fit the patient
Fig. 02 · 03 / 06Evidence sources
Evidence
Multiple lines,
stronger judgment.
Population, computational, family, functional, and literature evidence are integrated before classification.
Fig. 02 · 04 / 06ACMG classification
Classification
ACMG organizes
uncertainty.
Classification turns scattered evidence into a structured judgment, but it is not yet the whole clinical story.
Fig. 02 · 05 / 06Clinical interpretation
Meaning
From classification
to care.
Clinical interpretation asks what the classification means for this patient, this family, and the next decision.
Fig. 02 · 06 / 06Next steps
Report, counsel,
act.
The workflow closes with communication, counseling, family testing, management, and reevaluation.
