Table 4

Genotype interpretation according to the variant’s combination and mode of inheritance

TransmissionClass of the variant
(Validated or provisional)
Genotype interpretation
ConfirmatoryConsistentUncertain significance*
DominantLikely pathogenic/pathogenic1
Uncertain significance or unsolved1
Recessive†Likely pathogenic/pathogenic2‡1§ or ‡1
Uncertain significance or unsolved1§ or ‡2§ or ‡1
  • *Relies on clinical grounds.

  • †For those specific mutations in these genes that are inherited in a dominant way, the dominant rule applies.

  • ‡Biallelic.

  • §Not phased.