Variant - traditional report layer
Gene
NFKB1
HGVS
NM_003998.4:c.710C>G (p.Ser237Ter)
Inheritance
Autosomal dominant
Clinical classification
Pathogenic
Quant inference
Posterior probability, observed variant (detected variants)
0.377
95% CrI: 0.003 – 0.551
Posterior probability, undetected alternatives (run confirmation to eliminate)
0.364
Variant not detected
Quant confidence
Overall causal diagnosis probability
0.511
95% CrI: 0.237 – 0.774
Interpretation
Observed variant
Reported causal variant
Alternative variants
Run confirmation
✔ confirmed