Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations. 23451180

2013
dbSNP: rs80358061
rs80358061
BRCA1
C 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
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. 19241424

2009
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene. 18424508

2008
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients. 18284688

2008
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. 18159056

2007
dbSNP: rs80358061
rs80358061
BRCA1
C 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
dbSNP: rs80358061
rs80358061
BRCA1
C 0.700 CausalMutation CLINVAR Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. 7894493

1994