Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort. 27495310

2017
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR A Survey of BRCA1, BRCA2, and PALB2 mutations in women with breast cancer in Trinidad and Tobago. 27469594

2016
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. 27272900

2016
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. 25782689

2015
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR A high frequency of BRCA mutations in young black women with breast cancer residing in Florida. 26287763

2015
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752

2014
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs. 21990165

2012
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134

2012
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. 17308087

2007
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. 17924331

2007
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Thermal unfolding of human BRCA1 BRCT-domain variants. 17493881

2007
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR BRCA1 mutations in primary breast and ovarian carcinomas. 7939630

1994