Skip to content

QIAGEN inclusion list

QIAGEN provides a list of variants classified according to their own interpretations using the ACMG criteria: QIAGEN Clinical Insight Interpret version 9.3.1. This is a custom-built source from the QIAGEN knowledge base that Genomics England currently has a special license to use. This list has been sourced to enable prioritisation of variants classified as pathogenic or likely pathogenic in genes in the Newborns panel.

To be considered for prioritisation, a variant must have an internal allele frequency below 0.05. Alongside this, a variant also needs to satisfy one of the following criteria:

  1. The variant is present and classified as pathogenic or likely pathogenic in the list provided by QIAGEN (the reference and alternative alleles match exactly following normalisation of the QIAGEN variant).
  2. Two variants in the same phase together match a pathogenic or likely pathogenic MNV in the QIAGEN list.

Variants may be trimmed and left-aligned from the format in the QIAGEN during normalisation to ensure appropriate variant matching.

Variants will not be prioritised solely on the basis of matching a protein change of a variant in the QIAGEN inclusion list.

Limitations

See the Limitations of inclusion lists page to understand the limitations involved in prioritised variants from an inclusion list.