ETFBKMT — 3 ClinVar variants
All ClinVar germline ETFBKMT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1 flagged for review →
2 Likely benign · 1 Uncertain significance
Full ETFBKMT 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 split 1
The independent predictors disagree with each other — read with care.
All ETFBKMT variants
Likely benign 2
- c.314+1G>A Single submitter
- p.Ser118= Single submitter
Uncertain significance 1
- p.Val237Ile Single submitter ⚠