Variant Classification — ACMG/AMP & Evidence Curation — Hands-on

Learn how ACMG/AMP style frameworks are used for variant classification in clinical genomics labs. This module focuses on evidence gathering, criteria assignment, conflict resolution and documentation so that each classification decision is transparent, reproducible and ready for audit or re review in tumor boards and variant meetings.

Variant Classification — ACMG/AMP & Evidence Curation

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Session Index

Session 1 — ACMG/AMP Framework & Criteria Codes Session 2 — Evidence Gathering & Databases Session 3 — Classification Workflow & VUS Handling Session 4 — Mini Capstone: Evidence Table & Justification

Session 1

Fee: Rs 8800

ACMG/AMP Framework & Criteria Codes

Why classification frameworks are needed in clinics

consistency across cases auditability communication with clinicians

ACMG/AMP categories and evidence strength levels

very strong / strong / moderate / supporting pathogenic vs benign evidence P LP VUS LB B buckets

Overview of common criteria codes (high level)

PVS1, PS, PM, PP examples BA, BS, BP examples allele frequency, segregation, functional readouts

Session 2

Fee: Rs 11800

Evidence Gathering & Databases

Key evidence sources for variant curation

population databases snapshot disease and variant databases snapshot literature and case reports

Types of evidence and how they map to criteria

allele frequency and constraint data segregation and de novo observations functional and computational evidence

Documenting evidence in a structured way

evidence tables reference tracking rationale fields for reviewers

Session 3

Fee: Rs 14800

Classification Workflow & VUS Handling

Combining criteria into final classification

rules for P and LP calls rules for B and LB calls conflicting evidence scenarios

Working with VUS and borderline cases

when to stay with VUS follow up data that can shift calls communication of uncertainty

Reclassification and version control mindset

triggers for re review tracking previous decisions change logs for audits

Session 4

Fee: Rs 18800

Mini Capstone: Evidence Table & Justification

Curate evidence for a small set of variants

Theory + Practical

Build an ACMG style evidence and classification table

criteria codes applied strength and direction final classification column

Write a concise justification ready for reports and reviews

plain language rationale limitations and caveats notes for future reclassification

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Variant Classification — ACMG/AMP & Evidence Curation Training | Clinical Variant Interpretation

Variant Classification — ACMG/AMP & Evidence Curation — Hands-on