Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. | 29394989 | 2018 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants. | 26913838 | 2016 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples. | 27060066 | 2016 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Functional assays for analysis of variants of uncertain significance in BRCA2. | 24323938 | 2014 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. | 23233716 | 2013 |
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|
A | 0.700 | GeneticVariation | CLINVAR | A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. | 23108138 | 2013 |
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|
A | 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 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes. | 22632462 | 2012 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. | 19043619 | 2008 |