LYFE Sciences · Project HERA
Variant Interpretation · Classification Report
Generated: 2026-07-14
Case ID: NM_016222.2_c.299-3C_T_20260714_020308
Framework: None
Variant classification summary

DDX41  · NP_057306.2:p.?  · NM_016222.2
GRCh37: chr5:176943197 G>A  ·  GRCh38: chr5:177516196 G>A
Gene: DDX41 Transcript: NM_016222.2
Final call
All criteria require review: For research and educational purposes only.
Gene
DDX41
Transcript
NM_016222.2
Protein
NP_057306.2:p.?
gnomAD AF
1.2390667844606157e-05 (v4.1)
ClinVar
Uncertain significance
OncoKB
Interpretation summary
Generated evidence synthesis
Final determination:
ACMG/AMP criteria review
Criteria shown when status is available
All criteria require review: For research and educational purposes only.
Criterion Status Rationale Evidence used
PVS1 Not assessed
PS1 Not assessed
PS2 Not assessed
PS3 Not assessed
PS4 Not assessed
PM1 Not assessed
PM2 Not assessed
PM3 Not assessed
PM4 Not assessed
PM5 Not assessed
PM6 Not assessed
PP1 Not assessed
PP2 Not assessed
PP3 Not assessed
PP4 Not assessed
PP5 Not assessed
BA1 Not assessed
BS1 Not assessed
BS2 Not assessed
BS3 Not assessed
BS4 Not assessed
BP1 Not assessed
BP2 Not assessed
BP3 Not assessed
BP4 Not assessed
BP5 Not assessed
BP6 Not assessed
BP7 Not assessed
Disclaimer: The content and results provided by LYFE Sciences are for research and educational purposes only and must not be used as a substitute for professional medical judgment, diagnosis, or treatment. Always consult a qualified healthcare professional before making any clinical decisions.