ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020, a supplementary practical guidelines, is based on the Standards and Guidelines for the Interpretation of Sequence Variations issued by the American Society for Medical Genetics and Genomics (ACMG) and the Association of Molec...
since that does not guarantee that it will perform accurately and reliably in all labs. A series of control samples representing all disease causing variant types should therefore be collected by each laboratory to facilitate test validation/verification, and exchange of samples between laboratories is...