Sugi Variant

Sugi Variant/RBBP8

RBBP8 — 443 ClinVar variants

All ClinVar germline RBBP8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 189 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 15 Conflicting · 40 Benign · 7 Benign/Likely benign · 160 Likely benign · 209 Uncertain significance

Full RBBP8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 189

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 7

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

Predictors lean, ClinVar uncertain 160

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 160

Predictors split 22

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

All RBBP8 variants

Pathogenic 4

Pathogenic/Likely pathogenic 1

  • p.His358fs Multiple submitters Inborn genetic diseases

Likely pathogenic 7

Conflicting classifications of pathogenicity 15

Benign 40

Benign/Likely benign 7

Likely benign 160

Uncertain significance 209