ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5407-9G>A (rs551078372)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637809 SCV000759288 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-09-02 criteria provided, single submitter clinical testing This sequence change falls in intron 21 of the BRCA1 gene. It does not directly change the encoded amino acid sequence of the BRCA1 protein. This variant is present in population databases (rs551078372, ExAC 0.01%). This variant has been reported in an individual in the Leiden Open-source Variation Database (PMID: 21520333). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758845 SCV000887728 uncertain significance not provided 2018-06-27 criteria provided, single submitter clinical testing
Brotman Baty Institute,University of Washington RCV001077355 SCV001243272 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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