Sugi Variant

Sugi Variant/LAMC3

LAMC3 — 1772 ClinVar variants

All ClinVar germline LAMC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 745 flagged for review →

61 Pathogenic · 4 Pathogenic/Likely pathogenic · 40 Likely pathogenic · 75 Conflicting · 124 Benign · 35 Benign/Likely benign · 669 Likely benign · 764 Uncertain significance

Full LAMC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 745

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 50

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

Predictors lean, ClinVar uncertain 576

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 576

Predictors split 119

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

All LAMC3 variants

Pathogenic 61

Pathogenic/Likely pathogenic 4

  • p.Asp1061fs Multiple submitters Inborn genetic diseases
  • p.Asp1168fs Multiple submitters occipital pachygyria and polymicrogyria
  • p.Pro779fs Multiple submitters LAMC3-related disorder
  • p.Val267fs Multiple submitters

Likely pathogenic 40

Conflicting classifications of pathogenicity 75

Benign 124

Benign/Likely benign 35

Likely benign 669

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

Uncertain significance 764

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