Clinical Variant Interpretation (ACMG/AMP, ClinVar, COSMIC) — Hands-on

Learn to interpret germline and somatic variants for clinical reports using ACMG/AMP frameworks with practical, auditable workflows. You will apply evidence codes, weigh population, computational, functional, and segregation data, reconcile database conflicts, and produce clinician-ready reports with clear justifications and citations.

Clinical Variant Interpretation (ACMG/AMP, ClinVar, COSMIC)

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Session Index Category 5 · Clinical & Translational Bioinformatics

Session 1 — Evidence Frameworks & Databases Session 2 — Applying ACMG/AMP Criteria Session 3 — Somatic Context & Reporting Session 4 — VUS, Reclassification & QA

Session 1

Fee: Rs 14120

Evidence Frameworks & Databases

Evidence types & strength

population (MAF/AF) computational functional & segregation

Key resources

ClinVar / LOVD gnomAD / dbSNP COSMIC (somatic)

Nomenclature & transcripts

HGVS & RefSeq/Ensembl canonical vs MANE genome builds

Session 2

Fee: Rs 18320

Applying ACMG/AMP Criteria

Evidence codes in practice

PVS1 / PS / PM / PP BS / BP PM5 / PP3 nuances

Quantitative (Bayes) adjustments

strength upgrades/downgrades combining rules conflict resolution

Gene & disease specifics

haploinsufficiency vs GOF penetrance/expressivity hotspots & mechanisms

Session 3

Fee: Rs 22520

Somatic Context & Reporting

Somatic tiering overview

tumor type specificity driver vs passenger COSMIC lookups

Therapeutic, diagnostic, prognostic notes

evidence levels trial mentions (high level) report constraints

Report structure & language

summary & interpretation limitations & disclaimers appendices & citations

Session 4

Fee: Rs 28120

VUS, Reclassification & QA

Managing VUS & follow-up

family studies functional assay triage periodic review

Curation workflows & concordance

evidence tracking inter-lab comparisons change control

QA, SOPs & documentation

templates & checklists audit trails secure storage

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Clinical Variant Interpretation (ACMG/AMP, ClinVar, COSMIC) | Evidence, Classification & Reporting

Clinical Variant Interpretation (ACMG/AMP, ClinVar, COSMIC) — Hands-on