Platform Overview
Variant Analysis & ACMG Classification
ACMG Criteria Reference Library
- Population Data: PM2, BA1, BS1, BS2, PS4
- Computational Predictive Data: PP3, BP4, BP7
- Functional Evidence: PS3 and BS3
- Segregation Evidence: PP1 and BS4
- Cis/Trans Configuration: PM3 and BP2
- De Novo and Inheritance Pattern: PS2 and PM6
- PM1 – Variant Located in a Mutational Hotspot or Critical Functional Domain
- PS1 and PM5 – Same or Similar Amino Acid Changes at the Same Codon
- PP2 and BP1 – Evaluating Gene-Specific Variant Tolerance
- PM4 and BP3 – In-Frame Indels and Repeat Regions in Variant Interpretation
- PVS1 – Interpreting Loss-of-Function (LoF) Variants in SeqSMART
- Previous Evidence: PP5, BP6, and BP5
- PP4 – Phenotype Specificity Supporting Variant Pathogenicity