ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.81T>C (p.Cys27=) (rs587780805)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163586 SCV000214146 likely benign Hereditary cancer-predisposing syndrome 2014-10-31 criteria provided, single submitter clinical testing
Color RCV000163586 SCV000683368 likely benign Hereditary cancer-predisposing syndrome 2016-06-30 criteria provided, single submitter clinical testing
Invitae RCV000123288 SCV000166595 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-17 criteria provided, single submitter clinical testing This sequence change affects codon 27 of the BRCA1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRCA1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 136093). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, 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 RCV000506013 SCV000600440 uncertain significance not specified 2017-02-18 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000239077 SCV000297625 likely benign Breast-ovarian cancer, familial 1 2013-05-28 no assertion criteria provided clinical testing

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