To determine whether there was any clinical evidence to validate the link between the COL27A1.pG697R variant and Steel syndrome, a clinical expert manually reviewed the electronic health records (EHR), including clinical diagnoses, surgical procedures, and radiology reports of the five participants (3 women, 2 men, age range 34–74 years) homozygous for the COL27A1.pG697R variant that we had identified through the discovery and replication efforts. The gene discussed is COL27A1; the disease is Steel syndrome.