top of page

UKCGG Statement on the reporting of missense CHEK2 variants, and curated list of exceptions for reporting.

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

A summary list of variants previously classified by the CanVIG-UK group or currently in progress. For full consensus classifications, please see CanVar-UK or ClinVar.

 

Please note; variant review by CanVIG-UK is limited to variants dictated by members as pertinent to the development of cancer variant interpretation guidance. At this time, we do not have the capacity to formally review variants outside this remit. 

Spreadsheet of insertion, deletion, duplication and insertion-deletion variants returned by NDRS as part of UK clinical laboratory data collection. Includes key colorectal panel genes as well as BRCA1/BRCA2.

Release date: July 2023

National collection of DDX41 variants - a live database updated by UK clinical data submitters and hosted by CanVIG-UK. Available to view only.

Release date: November 2022

A demonstration video which describes how to use data from Epidemiological Multifactorial Analysis Studies as part of variant interpretation, per current CanVIG_UK guidance.

Release date: October 2023

Variant Resources

External Resources

ACGS

The Association for Clinical Genomic Science brings together scientists working within genetics into one professional association.

JMG Paper

Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.

 

Journal of Medical Genetics

Published: 13 March 2020.

UKCGG

The UK Cancer Genetics Group.

A multidisciplinary organisation for UK clinicians, counsellors & scientists interested in cancer susceptibility genetics.

ACMG

The American College of Medical Genetics variant interpretation framework can be found on their website. 

bottom of page