| Gene | Variant | Classification | VIS Score | ClinVar | gnomAD AF | Domain |
|---|
Initial classification: VUS. ARGUS detected ClinVar Pathogenic assertion with 3-star review. Reclassified to Pathogenic.
Initial phenotype: Poor Metabolizer. ARGUS cross-referenced PharmGKB — *41 is decreased, not null. Corrected to Intermediate Metabolizer.
Frameshift variant in exon 11. Associated with significantly elevated breast (69%) and ovarian (17%) cancer risk. Cascade testing recommended for first-degree relatives.
Moderate penetrance variant. 2-3x increased breast cancer risk. Consider enhanced screening with annual MRI in addition to mammography.
Missense variant in PI3K domain. Conflicting interpretations in ClinVar. VIS score elevated due to functional data suggesting loss of kinase activity.
Reduced metabolism of tamoxifen, codeine, and 47 additional substrates. Consider dose adjustment or alternative therapy.
Heterozygous carrier. 50% dose reduction required for fluoropyrimidines (5-FU, capecitabine). Life-threatening toxicity risk at standard dose.
Phase III, Olaparib maintenance in BRCA-mutated breast cancer. 47 active sites. Patient eligible based on molecular profile.
Phase II, AZD7648 + olaparib combination. CHEK2 loss-of-function carriers. 12 sites in US.
Based on a simulated hereditary cancer panel analysis with 12 autonomous agents and G-ARVIS quality scoring.
Autonomous orchestration across variant classification, PGx, somatic, literature mining, trials, and quality.
6-dimensional scoring: Groundedness 93.4%, Accuracy 96.1%, Reliability 91.2%, Variance 8.9%, Inference Cost $0.002, Safety 100%.
2 autonomous corrections detected and resolved. Zero hallucinations in final output. Every claim cited.
ACMG/AMP compliant variant classification, CPIC PGx reporting, clinical trial matching, and actionable findings.