ACMG/AMP Variant Classifier Amsterdam Criteria II CYP2C19 Phenotype Interpreter DLCN Score (FH)GJB2 Variant Interpreter Ghent-2 Criteria (Marfan)HTT CAG Repeat (Huntington)Hereditary Thrombophilia VTE Risk Revised Bethesda Guidelines Tyrer-Cuzick Breast Risk

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ACMG/AMP Variant Classifier

ACMG/AMP Variant Classification (2015)

Select all applicable evidence criteria. The framework combines evidence strength to generate a 5-tier variant classification (P → LP → VUS → LB → B). This is a decision-support tool — final classification requires expert molecular pathologist review.

Pathogenic Evidence Criteria

Benign Evidence Criteria

Guidelines & Evidence

Verified

Last Review: 2026

When to Use

Interpreting variants identified in clinical genetic testing panels, exomes, or whole-genome sequencing.

Classifying germline variants from hereditary cancer, cardiovascular, neurological, or metabolic gene panels.

Structuring evidence for VUS (Variant of Uncertain Significance) review and reclassification decisions.

Standard framework used by all ACMG-accredited clinical laboratories and required for CAP/CLIA certification.

Last Comprehensive Review: 2026

Related Medical Genetics Tools

Amsterdam Criteria II

HTT CAG Repeat

DLCN Score

Revised Bethesda Guidelines

Ghent-2 Criteria

CYP2C19 Phenotype Interpreter

Hereditary Thrombophilia VTE Risk

Tyrer-Cuzick Breast Risk

GJB2 Variant Interpreter

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In Recent Clinical News

Scanning Medical Journals

No new significant updates or guidelines matching this topic were found today. We will check again soon.