Furthermore, the above-discussed case of ataxia-telangiectasia is an important reminder that synonymous variants (maternally inherited ATM sSNV in that proband) may be combined with another complex variant, such as deep intronic variant (paternally inherited deep intronic in ATM), which is something to be considered in difficult-to-solve cases [21] (Table 1). Here, ATM is linked to Ataxia-telangiectasia.