CRADD — 84 ClinVar variants

All ClinVar germline CRADD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 2 Conflicting · 9 Benign · 1 Benign/Likely benign · 30 Likely benign · 34 Uncertain significance

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

⚑ Evidence disagreements 33

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

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 23

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

All CRADD variants

Pathogenic 4

  • p.Ala18fs Multiple submitters
  • p.Arg170His Multiple submitters intellectual disability ⚠
  • p.Met1Thr Single submitter intellectual disability
  • p.Met1Arg No assertion criteria Moderate intellectual disability

Pathogenic/Likely pathogenic 1

  • p.Trp131Ter Multiple submitters intellectual disability, autosomal recessive 34

Likely pathogenic 3

  • p.Gly17fs Multiple submitters intellectual disability, autosomal recessive 34
  • c.298+59160del Single submitter
  • p.Arg170Cys Single submitter intellectual disability, autosomal recessive 34 ⚠

Conflicting classifications of pathogenicity 2

  • p.Asp96fs Single submitter intellectual disability, autosomal recessive 34
  • p.Gly128Arg Single submitter intellectual disability, autosomal recessive 34 ⚠

Benign 9

Benign/Likely benign 1

Likely benign 30

Uncertain significance 34