ECSCR — 1 ClinVar variant
All ClinVar germline ECSCR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1 flagged for review →
1 Uncertain significance
Full ECSCR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1
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 1
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All ECSCR variants
Uncertain significance 1
- p.Thr31Asn Single submitter ⚠