Sugi Variant

Sugi Variant/CITED2

CITED2 — 91 ClinVar variants

All ClinVar germline CITED2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →

1 Likely pathogenic · 1 Conflicting · 8 Benign · 3 Benign/Likely benign · 8 Likely benign · 70 Uncertain significance

Full CITED2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 60

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 lean, ClinVar uncertain 30

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

Predictors split 30

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

All CITED2 variants

Likely pathogenic 1

Conflicting classifications of pathogenicity 1

  • p.His39del Single submitter atrial septal defect 8

Benign 8

Benign/Likely benign 3

Likely benign 8

Uncertain significance 70