AnnotSV โ Between Annotation and Clinical Classification
Why this matters
AnnotSV aids review by integrating SV/CNV data with gene annotations, population frequencies, disease associations, and dosage-sensitivity evidence. Results vary depending on the input caller, genome build, breakpoint uncertainty, and database snapshot. Ranking or automated classification represents a summary of evidence rather than definitive clinical interpretation. Phenotype, inheritance patterns, assay resolution, and ACMG/ClinGen criteria must be evaluated separately, and the exact tool version and data release used should be documented.
Interpretation boundary
This article explains the concept and the limits of the evidence. It does not provide diagnostic, testing, or treatment decisions for an individual patient.