Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations

Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network

(2020) Alice Garrett et al.   JOURNAL OF MEDICAL GENETICS

Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines

(2020) Sean V. Tavtigian et al.   HUMAN MUTATION

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

(2019) Dona M. Kanavy et al.   Genome Medicine

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

(2019) Sarah E. Brnich et al.   Genome Medicine

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

(2018) Sean V Tavtigian et al.   GENETICS IN MEDICINE

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease

(2018) Natasha T. Strande et al.   GENETICS IN MEDICINE

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

(2018) Ahmad N. Abou Tayoun et al.   HUMAN MUTATION

Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks

(2018) Sarah E. Brnich et al.   HUMAN MUTATION

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

(2018) Jessica L. Mester et al.   HUMAN MUTATION

Updated recommendation for the benign stand-alone ACMG/AMP criterion

(2018) Rajarshi Ghosh et al.   HUMAN MUTATION

BRCA1andBRCA2genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance

(2015) D. M. Eccles et al.   ANNALS OF ONCOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

(2015) Laura M. Amendola et al.   GENOME RESEARCH

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Vemurafenib in Patients With BRAF V600E Mutation–Positive Advanced Melanoma

(2012) Marcus C. Ravnan et al.   CLINICAL THERAPEUTICS

Estrogen Receptor and Progesterone Receptor As Predictive Biomarkers of Response to Endocrine Therapy: A Prospectively Powered Pathology Study in the Tamoxifen and Exemestane Adjuvant Multinational Trial

(2011) John M.S. Bartlett et al.   JOURNAL OF CLINICAL ONCOLOGY

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION