Abstract
Cytogenomic microarray analysis (CMA) is a powerful tool to identify submicroscopic copy number variants (CNVs) in patients with developmental delay and/or congenital anomalies, detecting CNVs in roughly 20% of this population. It is challenging to establish many CNVs as definitively pathogenic or benign, leading to a significant proportion of CNVs reported as variants of uncertain significance (VOUS). In a 6 year period, our laboratory reported a CNV in 20% of approximately 5,000 patients. Of these CNVs, 40% were interpreted as VOUS, with limited benefit to the patient.
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