| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. | 31131967 | 2019 |
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|
G | 0.700 | CausalMutation | CLINVAR | The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing. | 28294317 | 2017 |
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|
G | 0.700 | CausalMutation | CLINVAR | Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic. | 25724305 | 2015 |
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|
G | 0.700 | CausalMutation | CLINVAR | Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. | 22505045 | 2012 |
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|
G | 0.700 | CausalMutation | CLINVAR | Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members. | 21769658 | 2012 |
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|
G | 0.700 | CausalMutation | CLINVAR | Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction. | 23239986 | 2012 |
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|
G | 0.700 | CausalMutation | CLINVAR | Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. | 20516115 | 2010 |
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|
G | 0.700 | CausalMutation | CLINVAR | Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | 16267036 | 2005 |
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|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR |