CanVIG-UK Gene Specific Recommendations

Statement to document CanVIG-UK review of the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis guidelines for APC, v2.1.0

CanVIG-UK gene specific recommendations for ATM variants, based on ATM HBOC VCEP guidelines

CanVIG-UK interim gene specific recommendations for BRCA1/BRCA2 variants, and interim report detailing additional testing focused on the 3' end of BRCA1 exon 5, specifically at the c.301+1 position.

Statement attached here to document CanVIG-UK review of the ClinGen CDH1 VCEP guidelines

CanVIG-UK gene specific recommendations for CHEK2 variants based on the ClinGen HBOC VCEP guidelines.

CanVIG-UK gene specific recommendations for MMR gene variants.

Statement attached here to document CanVIG-UK review of the ClinGen PALB2 VCEP guidelines.

CanVIG-UK interim gene specific recommendations for PTEN variants based on ClinGen PTEN VCEP guidelines.

CanVIG-UK interim gene specific recommendations for RAD51C and RAD51D variants.

Statement attached here to document CanVIG-UK review of the ClinGen Myeloid Malignancy Variant Curation Expert Panel RUNX1 guidelines.

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

CanVIG-UK gene specific recommendations for TP53 variants based on the ClinGen TP53 VCEP guidelines.