CCDC62 — 103 ClinVar variants

All ClinVar germline CCDC62 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 3 Benign · 6 Likely benign · 92 Uncertain significance

Full CCDC62 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 92

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 70

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

All CCDC62 variants

Pathogenic 1

  • p.Gln148Ter No assertion criteria spermatogenic failure 67

Likely pathogenic 1

  • p.Asn45fs Single submitter spermatogenic failure 67

Benign 3

Likely benign 6

Uncertain significance 92