Sugi Variant

Sugi Variant/LRMDA

LRMDA — 94 ClinVar variants

All ClinVar germline LRMDA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →

6 Pathogenic · 5 Likely pathogenic · 3 Conflicting · 8 Benign · 3 Benign/Likely benign · 42 Likely benign · 27 Uncertain significance

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

⚑ Evidence disagreements 23

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 1

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

Predictors lean, ClinVar uncertain 17

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

Predictors split 5

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

All LRMDA variants

Pathogenic 6

Likely pathogenic 5

Conflicting classifications of pathogenicity 3

Benign 8

Benign/Likely benign 3

Likely benign 42

Uncertain significance 27