Variant Analysis & ACMG Classification
Overview of SeqSMART Variant Classification
Last Updated: October 11, 2025Introduction Variant classification is one of the central functions of SeqSMART.It combines rule-based interpretation (ACMG/AMP guidelines), multi-source annotation, and expert-driven validation to deliver accurate and transparent variant pathogenicity assessments. SeqSMART’s classification process is designed specifically for professional genomic laboratories — integrating automation with expert control. Every classification is traceable, evidence-based, and customizable according to institutional...
ACMG/AMP Framework in SeqSMART
Last Updated: October 11, 2025Introduction The ACMG/AMP framework defines the international standard for interpreting the clinical significance of genomic variants.SeqSMART implements this framework as the foundation of its variant interpretation engine — combining automation, transparency, and expert oversight. While SeqSMART adheres strictly to the official ACMG/AMP guidelines, it introduces an innovative simplified structure and interactive user interface to make...
Customizing or Overriding ACMG Results (for Expert Reviewers)
Last Updated: October 11, 2025Introduction SeqSMART fully implements the ACMG/AMP variant classification guidelines, which remain the international standard for assessing variant pathogenicity.However, the genomic interpretation field has evolved significantly since the original ACMG/AMP framework was introduced in 2015. Expert panels — particularly the ClinGen Expert Panels — have refined and reinterpreted several criteria to increase accuracy and disease specificity....