Our cohort also presented with challenges in result interpretations, such as the previously described abnormal but indeterminate chromosome breakage, telomere length analysis in the 1st–10th percentile for a patient with a VUS in TINF2, and the original classification of a full gene deletion of DKC1 as a VUS in a female patient who appeared to be a manifesting carrier for Dyskeratosis Congenita, as seen in previous studies due to skewed X‐inactivation [28, 29, 30]. The gene discussed is DKC1; the disease is dyskeratosis congenita.