Sugi Variant

Sugi Variant/RPGRIP1L

RPGRIP1L — 2080 ClinVar variants

All ClinVar germline RPGRIP1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 696 flagged for review →

124 Pathogenic · 78 Pathogenic/Likely pathogenic · 127 Likely pathogenic · 104 Conflicting · 41 Benign · 25 Benign/Likely benign · 788 Likely benign · 793 Uncertain significance

Full RPGRIP1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 696

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 3

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

Predictors agree, ClinVar conflicts 49

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

Predictors lean, ClinVar uncertain 550

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 550

Predictors split 94

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

All RPGRIP1L variants

Pathogenic 124

Pathogenic/Likely pathogenic 78

Likely pathogenic 127

Conflicting classifications of pathogenicity 104

Benign 41

Benign/Likely benign 25

Likely benign 788

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 793

Showing the top 300 by review status; the full set is in the sitemap.