Table 1 Parental follow-up studies

From: Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions

Variant classification

Variant origin

 

De novo

Maternal

Paternal

Pathogenic

17

2

0

Likely pathogenic

3

0

0

VUS—possibly pathogenic

2

0

1

VUS—uncertain significance

2

8

6

VUS—possibly benign

0

4

2

  1. VUS variant of uncertain significance