Sugi Variant

Sugi Variant/PCCB

PCCB — 1272 ClinVar variants

All ClinVar germline PCCB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 381 flagged for review →

94 Pathogenic · 53 Pathogenic/Likely pathogenic · 109 Likely pathogenic · 60 Conflicting · 26 Benign · 7 Benign/Likely benign · 530 Likely benign · 393 Uncertain significance

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

⚑ Evidence disagreements 381

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 34

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

Predictors lean, ClinVar uncertain 245

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 245

Predictors split 101

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

All PCCB variants

Pathogenic 94

Pathogenic/Likely pathogenic 53

Likely pathogenic 109

Conflicting classifications of pathogenicity 60

Benign 26

Benign/Likely benign 7

Likely benign 530

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 393

Showing the top 300 by review status; the full set is in the sitemap.