rs41293513
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
|
28339459 |
2017 |
rs41293513
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
rs41293513
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
G |
0.700 |
CausalMutation
|
CLINVAR |
In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample.
|
27886673 |
2016 |
rs41293513
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
|
25452441 |
2015 |
rs41293513
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
G |
0.700 |
CausalMutation
|
CLINVAR |
An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.
|
25146914 |
2014 |
rs41293513
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
G |
0.700 |
CausalMutation
|
CLINVAR |
A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
|
23108138 |
2013 |
rs41293513
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.
|
23893897 |
2013 |
rs41293513
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
|
23108138 |
2013 |
rs41293513
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
|
21702907 |
2011 |
rs41293513
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
|
20513136 |
2010 |
rs41293513
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Functional assays for classification of BRCA2 variants of uncertain significance.
|
18451181 |
2008 |
rs41293513
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.
|
19043619 |
2008 |
rs41293513
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Computational and structural investigation of deleterious functional SNPs in breast cancer BRCA2 gene.
|
18724707 |
2008 |
rs41293513
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Functional assays for classification of BRCA2 variants of uncertain significance.
|
18451181 |
2008 |
rs41293513
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
G |
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 |