Table 2. Invitae VUS classification
VariantMAFsd/rmsdImp/refUnrefinedDMSDMS callIndication
D94ANA0.26ImputedNA0.46Likely damagingCardio
D96HNA0.26ImputedNA0.72Likely damagingCardio
I28V10−50.05Mild ref.0.880.88UncertainCardio
N98SNA0.05Mild ref.0.890.89UncertainCardio
T35I4 × 10−60.04Mild ref.0.930.93Likely benignNon‐Cardio
E48GNA0.05Mild ref.0.930.93Likely benignCardio
G26DNA0.06Mild ref.0.940.94Likely benignNon‐Cardio
T27S3 × 10−50.05Mild ref.0.960.96Likely benignNon‐Cardio
V122ANA0.05Mild ref.0.980.98Likely benignNon‐Cardio
A104GNA0.08Mild ref.1.001.00Likely benignNon‐Cardio
  • sd/rmsd, standard error (for measured values)/root‐mean‐squared deviation (for imputed values); imp/ref, imputation/refinement; mild ref., mild refinement.