A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling.

We present a novel likely pathogenic variant (c.11662C>T) in DNAH11 that has manifested in heterotaxy with variability in phenotypes for subsequent pregnancies of common parents. This report demonstrates that sibship illustrates potential variability in phenotypes associated with the same pathogenic variants within a family and highlights the difficulty in genetic counseling due to the variation in clinical presentation.