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Our data reveal limited diagnostic utility for duplications of uncertain significance 1 Mb. Considerations for revised reporting criteria are discussed and are applicable to CNVs detected by any genome-wide exploratory methodology, including exome/genome sequencing. Our data reveal limited diagnostic utility for duplications of uncertain significance less then 1 Mb. Considerations for revised reporting criteria are discussed and are applicable to CNVs detected by any genome-wide exploratory methodology, including exome/genome seque