Sugi Variant

Sugi Variant/RFX3

RFX3 — 153 ClinVar variants

All ClinVar germline RFX3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →

3 Pathogenic · 12 Likely pathogenic · 2 Conflicting · 4 Benign · 2 Benign/Likely benign · 20 Likely benign · 110 Uncertain significance

Full RFX3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 93

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 63

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

Predictors split 29

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

All RFX3 variants

Pathogenic 3

  • p.Arg210Ter Single submitter neurodevelopmental disorder
  • p.Gln39Ter Single submitter RFX3-associated neurodevelopmental disorder
  • p.Gln596Ter Single submitter Inborn genetic diseases

Likely pathogenic 12

Conflicting classifications of pathogenicity 2

Benign 4

Benign/Likely benign 2

Likely benign 20

Uncertain significance 110