“A problem for the industry is that…[the same] variant is classified as a ‘variant of unknown significance’, ‘likely benign’, and ‘pathogenic’ by different laboratories due to variations in interpretation.”
https://www.cdc.gov/cliac/docs/addenda/cliac0419/10a_NGS_Workgroup_Report.pdf
The post Clinical Laboratory Improvement Advisory Committee (CLIAC) Next Generation Sequencing (NGS) Workgroup appeared first on Center for Genomic Interpretation.
“A problem for the industry is that…[the same] variant is classified as a ‘variant of unknown significance’, ‘likely benign’, and ‘pathogenic’ by different laboratories due to variations in interpretation.”
The post Clinical Laboratory Improvement Advisory Committee (CLIAC) Next Generation Sequencing (NGS) Workgroup appeared first on Center for Genomic Interpretation.