CanVIG-UK Gene Specific Recommendations
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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
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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​
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CanVIG-UK gene specific recommendations for BRCA1/BRCA2 variants.
Approved: 31st March 2023
Previous BRCA1/BRCA2 guidance: Version 1.17, Version 1.16, Version 1.15, Version 1.14, Version 1.12, Version 1.10
*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additional testing focused on the 3' end of BRCA1 exon 5, specifically at the c.301+1 position (Dace and Findlay, 2023, unpublished findings, based on the Findlay et al., 2018 assay).
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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
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Previous guidance: Version 1.0
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CanVIG-UK gene specific recommendations for SDHB and SDHD variants.
Approved: 23rd March 2022
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CanVIG-UK gene specific recommendations for MMR gene variants.
Approved: 25th May 2022
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Previous MMR Guidance: Version 1.3, Version 1.4
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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
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Previous guidance: Version 1.0
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CanVIG-UK gene specific recommendations for TP53 variants based on the ClinGen TP53 VCEP guidelines (https://clinicalgenome.org/affiliation/50013/)
Approved: 25th May 2023
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Previous TP53 guidance: Version 1.4, Version 1.5