Sugi Variant

Sugi Variant/CTH

CTH — 100 ClinVar variants

All ClinVar germline CTH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 3 Conflicting · 4 Benign · 8 Likely benign · 81 Uncertain significance

Full CTH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 56

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 31

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 24

The independent predictors disagree with each other — read with care.

All CTH variants

Pathogenic 2

Pathogenic/Likely pathogenic 1

Likely pathogenic 1

Conflicting classifications of pathogenicity 3

Benign 4

Likely benign 8

Uncertain significance 81