Exceptional variants/gene-specific variant reporting

There are certain genes in which variability in penetrance associated with different variants is such that not all variants will be reported by NHS laboratories/UK practice.

The list of exceptions for reporting is reviewed by UKCGG and CanVIG, and can be viewed by downloading the file here below. This is updated as required in line with changing evidence/laboratory best practice guidelines. 

With emerging evidence, and as variants are added to the exception list, the list will be updated and a new version published. Old versions will be retired but will continue to be accessible here below for reference.

Version #  Date of publication 
1 08/04/2024
1.1 (correction of typo) 12/07/2024

Please read the UKCGG statement regarding reporting of variants in CHEK2, which can be downloaded from the link here below.