Clinical Variant Interpretation — ClinVar & COSMIC

Gain expertise in clinical variant interpretation for germline and somatic contexts using ACMG AMP rules, VEP or ANNOVAR annotation, ClinVar or COSMIC evidence, and reproducible reporting.

Clinical Variant Interpretation (ClinVar & COSMIC)

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Session Index

Session 1 — Evidence Framework & HGVS Session 2 — Annotation & Population Filters Session 3 — Pathogenicity, Somatic & CNV Session 4 — Mini Capstone: Clinical Report

Session 1

Fee: Rs 6300

Evidence Framework & HGVS

ACMG AMP evidence codes, weights and decision trees

Theory

VCF structure, INFO fields and genotype attributes

Theory

HGVS nomenclature and transcript selection strategies

HGVS MANE Select RefSeq or Ensembl

Session 2

Fee: Rs 8400

Annotation & Population Filters

Functional and consequence annotation pipelines

Ensembl VEP SnpEff ANNOVAR

Population databases and allele frequency thresholds

gnomAD 1000 Genomes dbSNP

Clinical knowledgebases and automated rule helpers

ClinVar VarSome InterVar

Session 3

Fee: Rs 11200

Pathogenicity, Somatic & CNV

Predictors and splice impact scoring for VUS triage

CADD REVEL SIFT or PolyPhen2 SpliceAI

Somatic interpretation frameworks and actionability tiers

COSMIC CIViC OncoKB PharmGKB

CNV and structural variant interpretation principles

ClinGen dosage IGV review ACMG CNV rules

Session 4

Fee: Rs 14000

Mini Capstone: Clinical Report

Tumor or normal case interpretation and evidence synthesis

Theory

End to end VCF to report with audit trail and templates

VEP or ANNOVAR pandas Quarto or R Markdown

Clinical narrative, classification table and sign off bundle

ACMG AMP ClinVar or COSMIC Submission ready metadata

PDF

Clinical Variant Interpretation (ClinVar/COSMIC) Training | ACMG AMP, VEP or ANNOVAR, Actionability

Clinical Variant Interpretation — ClinVar & COSMIC