Sugi Variant

Sugi Variant/PRPF6

PRPF6 — 711 ClinVar variants

All ClinVar germline PRPF6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 228 flagged for review →

2 Likely pathogenic · 37 Conflicting · 21 Benign · 36 Benign/Likely benign · 309 Likely benign · 306 Uncertain significance

Full PRPF6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 228

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 9

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

Predictors lean, ClinVar uncertain 153

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 153

Predictors split 66

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

All PRPF6 variants

Likely pathogenic 2

Conflicting classifications of pathogenicity 37

Benign 21

Benign/Likely benign 36

Likely benign 309

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

Uncertain significance 306

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