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CanVIG-UK Gene Specific Recommendations

Version 1.0

Statement attached here to document CanVIG-UK review of the ClinGen CDH1 VCEP guidelines (https://clinicalgenome.org/affiliation/50014/)

Approved: 21st July 2023

Version 1.0

Statement attached here to document CanVIG-UK review of the ClinGen PALB2 VCEP guidelines (https://clinicalgenome.org/affiliation/50039/)

Approved: 2nd June 2023

Version 1.0

CanVIG-UK interim gene specific recommendations for PTEN variants based on ClinGen PTEN VCEP guidelines (https://clinicalgenome.org/affiliation/50012/)

Approved: 1st November 2022

*NEW DOCUMENT*

Interim report detailing additional testing focused on the 3' end of BRCA1 exon 5, specifically at the c.301+1 position (Dace and Findlay, 2023, unpublished findings, based on the Findlay et al., 2018 assay).

Version 1.1

CanVIG-UK gene specific recommendations for ATM variants, based on ATM HBOC VCEP guidelines (https://clinicalgenome.org/affiliation/50039/)

Approved: 30th June 2023

Previous guidance: Version 1.0

Version 1.3

CanVIG-UK gene specific recommendations for SDHB and SDHD variants.

Approved: 23rd March 2022

 

Version 1.5

CanVIG-UK gene specific recommendations for MMR gene variants.

Approved: 25th May 2022

Previous MMR Guidance: Version 1.3, Version 1.4

Version 1.1

CanVIG-UK gene specific recommendations for CHEK2 variants based on the ClinGen HBOC VCEP guidelines (https://clinicalgenome.org/affiliation/50039/)

Approved: 25th May 2023

Previous guidance: Version 1.0

Version 1.6

CanVIG-UK gene specific recommendations for TP53 variants based on the ClinGen TP53 VCEP guidelines (https://clinicalgenome.org/affiliation/50013/)

Approved: 25th May 2023

Previous TP53 guidance: Version 1.4, Version 1.5

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