The ACMG, in collaboration with ClinGen developed and published updated detailed technical standards for interpretation and reporting of constitutional copy number variants [1-2]. The updated standards were influenced by the ACMG standards for interpretation of sequence variants with a detailed algorithmic approach that looks at various sources of evidence in favor of a variant being pathogenic or benign with each evidence having a numerical weight that is added together to arrive at a final interpretation. Although the standard is very useful in arriving at a consistent classification, manually performing the review for every variant that is detected by high-resolution technologies, such as SNP microarrays or NGS, can be prohibitively time consuming. We have developed a software tool that automatically calculates the score for many of the evidence categories described by the standards.
1 Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children’s Hospital Los Angeles, Los Angeles, California, USA
2 Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California, USA
3 BioDiscovery, Inc, El Segundo, California, USA
