Discrepancies in variant classification between the DVD versus ClinVar and HGMD were observed at 14.5% and 5%, respectively (Figure 2). Differences were due in part to the misclassification of B and LB variants as P or LP and have been reported in other studies highlighting the limitations of ClinVar and HGMD.28, 29, 30 ClinVar is based on submissions from researchers and clinical diagnostic laboratories. It is an invaluable resource that creates an open platform for sharing genetic data and variant interpretation, but it has some disadvantages. Most obvious are the differences in the methods used to detect, validate, curate, and derive variant interpretation, which understandably vary between groups and thus can lead to conflicting classifications.27, 31, 32, 33 Unlike ClinVar, HGMD relies on published literature and is primarily a disease-causing focused variant database. Although the variants reported in HGMD have been published and therefore have undergone peer review, the HGMD curation process is error prone due to the potential for subjective misinterpretation of the literature and a lack of disease-specific experts reviewing the material.