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CanVIG-UK Resources

Report Template Filters

Variant Penetrance
Testing Context
Result
Genes

Diagnostic: ATM c.7271T>G p.(Val2424Gly)

v1.1

9 January 2024

Example diagnostic testing template for reporting ATM c.7271T>G p.(Val2424Gly)

Previous Versions

Diagnostic: BRCA/PALB2 Pathogenic/Likely Pathogenic

v1.2

9 January 2024

Example diagnostic testing template for reporting a BRCA or PALB2 germline pathogenic/likely pathogenic variant.

Previous Versions

Diagnostic: BRCA/PALB2 Pathogenic/Likely Pathogenic Reduced Penetrance

v1.1

9 January 2024

Example diagnostic testing template for reporting a reduced penetrance BRCA or PALB2 germline pathogenic/likely pathogenic variant.

Previous Versions

Diagnostic: BRCA1 p.(Arg1699Gln), Reduced Penetrance

v1.1

9 January 2024

Example diagnostic testing template for reporting a BRCA1 p.(Arg1699Gln) germline variant.

Previous Versions

Diagnostic: CHEK2/ATM Pathogenic/Likely Pathogenic

v1.1

9 January 2024

Example diagnostic testing template for reporting a CHEK2 or ATM germline pathogenic/likely pathogenic variant.

Previous Versions

Predictive: BRCA/PALB2 Positive

v1.2

9 January 2024

Example predictive testing template for reporting a positive BRCA or PALB2 germline pathogenic/likely pathogenic variant

Previous Versions

Predictive: BRCA/PALB2 Positive, Reduced Penetrance

v1.1

9 January 2024

Example predictive testing template for reporting a positive BRCA or PALB2 germline pathogenic/likely pathogenic variant (reduced penetrance)

Previous Versions

Predictive: BRCA1 p.(Arg1699Gln), Reduced Penetrance

v1.1

9 January 2024

Example predictive testing template for reporting a BRCA or PALB2 germline pathogenic/likely pathogenic variant (reduced penetrance)

Previous Versions

Predictive: CHEK2/ATM Positive

v1.1

9 January 2024

Example predictive testing template for reporting a positive CHEK2 or ATM germline pathogenic/likely pathogenic variant

Previous Versions

Predictive: Male BRCA1/PALB2 Positive

v1.1

1 May 2022

Example predictive testing template for reporting a positive BRCA1 or PALB2 germline pathogenic/likely pathogenic variant

Previous Versions

Predictive: Male BRCA2 Positive

v1.1

1 May 2022

Example predictive testing template for reporting a positive BRCA2 germline pathogenic/likely pathogenic variant

Previous Versions

Predictive: Male, CHEK2/ATM Positive

v1.0

1 May 2022

Example predictive testing template for reporting a positive CHEK2 or ATM germline pathogenic/likely pathogenic variant

Previous Versions

R207 No Pathogenic Variant Detected

v1.0

1 June 2022

Example template for reporting no germline pathogenic/likely pathogenic variants in the Ovarian Cancer R207 diagnostic panel.

Previous Versions

R207 Pathogenic/Likely Pathogenic

v1.2

9 January 2024

Example template for reporting a germline pathogenic/likely pathogenic variant in the Ovarian Cancer R207 diagnostic panel.

Previous Versions

R207 Variant of Uncertain Significance

v1.0

1 June 2022

Example template for reporting a germline variant of uncertain significance in the Ovarian Cancer R207 diagnostic panel.

Previous Versions

R208 No Pathogenic Variant Detected (Diagnostic Testing)

v1.1

1 May 2022

Example diagnostic testing template for reporting no germline pathogenic/likely pathogenic variants identified in the R208 panel (including CHEK2 and ATM)

Previous Versions

R208 No Pathogenic Variant Detected (Predictive Testing)

v1.1

1 May 2022

Example predictive testing template for reporting a negative variant for the R208 germline panel

Previous Versions

R208 Variant of Uncertain Significance

v1.1

1 May 2022

Example diagnostic testing template for reporting where a variant of uncertain significance (VUS) is identified in the R208 panel (including CHEK2 and ATM)

Previous Versions

R430 No Pathogenic Variant Detected

v1.0

1 September 2023

Example template for reporting no germline pathogenic/likely pathogenic variants in the Prostate Cancer R430 diagnostic panel.

Previous Versions

R430 Pathogenic/Likely Pathogenic

v1.1

9 January 2024

Example template for reporting a germline pathogenic/likely pathogenic variant in the Prostate Cancer R430 diagnostic panel.

Previous Versions

R430 Pathogenic/Likely Pathogenic, Reduced Penetrance

v1.1

9 January 2024

Example diagnostic testing template for reporting a reduced penetrance germline pathogenic/likely pathogenic variant in the Prostate Cancer R430 diagnostic panel.

Previous Versions

R430 Variant of Uncertain Significance

v1.0

1 September 2023

Example template for reporting a germline variant of uncertain significance in the Prostate Cancer R430 diagnostic panel.

Previous Versions

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. 

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