CanVIG-UK Resources

Presentation: Variant Reinterpretation and Reclassification
 

Presenter: Lucy Loong

Meeting date: Friday 11 June 2021

Presentation: Clinical considerations of variant reclassification
 

Presenter: Helen Hanson and Miranda Durkie

Meeting date: Friday 11 June 2021

Presentation: Functional Characterisation of BRCA1 Variants
(Bouwman et al., 2020)

Presenter: George Burghel

Meeting date: Friday 8 January 2021

Presentation: PVS1 / PM4 case studies

Presenter: James Drummond

Meeting date: Friday 13 November 2020

Presentation: BA1 and BS1 for Lynch and PALB2

Presenter: Miranda Durkie

Meeting date: Friday 9 October 2020

Presentation: BA1 and BS1 for BRCA1 and BRCA2

Presenter: Miranda Durkie

Meeting date: Friday 9 October 2020

Presentation: Evaluation of Functional Studies
(Brnich et al., 2020)

Presenter: George Burghel

Meeting date: Friday 13 December 2019

Meeting Slides

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.