Sugi Variant

Sugi Variant/CCDC8

CCDC8 — 243 ClinVar variants

All ClinVar germline CCDC8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 154 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 10 Conflicting · 6 Benign · 10 Benign/Likely benign · 48 Likely benign · 157 Uncertain significance

Full CCDC8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 154

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 4

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

Predictors lean, ClinVar uncertain 58

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

Predictors split 92

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

All CCDC8 variants

Pathogenic 1

Pathogenic/Likely pathogenic 1

Likely pathogenic 10

Conflicting classifications of pathogenicity 10

Benign 6

Benign/Likely benign 10

Likely benign 48

Uncertain significance 157