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SCN5A Variant Pathogenicity Index Calculator
SCN5A Variant Pathogenicity Index: Explanation and Clinical Context The SCN5A Variant Pathogenicity Index is a clinically validated tool to estimate the likelihood that a given SCN5A gene variant contributes to arrhythmia disorders, including Brugada Syndrome and Long QT Syndrome type 3. It integrates multiple lines of evidence: variant type (missense, nonsense, frameshift, splice-site, in-frame indel), functional st