Sugi Variant

Sugi Variant/CEP97

CEP97 — 346 ClinVar variants

All ClinVar germline CEP97 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 219 flagged for review →

1 Likely pathogenic · 4 Conflicting · 12 Benign · 1 Benign/Likely benign · 93 Likely benign · 235 Uncertain significance

Full CEP97 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 219

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 149

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

Predictors split 65

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

All CEP97 variants

Likely pathogenic 1

Conflicting classifications of pathogenicity 4

Benign 12

Benign/Likely benign 1

Likely benign 93

Uncertain significance 235