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ACMG/AMP Variant ClassifierAmsterdam Criteria IICYP2C19 Phenotype InterpreterDLCN Score (FH)GJB2 Variant InterpreterGhent-2 Criteria (Marfan)HTT CAG Repeat (Huntington)Hereditary Thrombophilia VTE RiskRevised Bethesda GuidelinesTyrer-Cuzick Breast Risk
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Hereditary Thrombophilia VTE Risk

Hereditary Thrombophilia VTE Risk

Interprets thrombophilia variant findings for VTE risk stratification and anticoagulation guidance. Note: MTHFR variants should NOT be tested for VTE risk (ACMG 2013).

Thrombophilia Defect Identified

Concurrent Risk Triggers (select all that apply)

Guidelines & Evidence

Verified

Last Review: 2026

When to Use

When to Use

Interpreting results from thrombophilia gene panel testing (Factor V Leiden, Prothrombin G20210A, Protein C/S/Antithrombin deficiency).
Assessing VTE recurrence risk after a first thrombotic event.
Guiding duration of anticoagulation therapy after provoked or unprovoked VTE.
Evaluating thrombotic risk in asymptomatic relatives of affected individuals.
Endorsed by ASH, BCSH, ACMG, ISTH for hereditary thrombophilia interpretation.

When NOT to Test

MTHFR C677T/A1298C should NOT be tested for VTE risk assessment — ACMG 2013 position statement explicitly states that MTHFR variants do not independently increase VTE risk and therapeutic intervention based on this result is not evidence-based.

Last Comprehensive Review: 2026