ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7806-3C>G (rs863224598)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196698 SCV000254214 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-06-06 criteria provided, single submitter clinical testing This sequence change falls in intron 16 of the BRCA2 mRNA. It does not directly change the encoded amino acid sequence of the BRCA2 protein. This variant has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Counsyl RCV000409631 SCV000488619 uncertain significance Breast-ovarian cancer, familial 2 2016-05-10 criteria provided, single submitter clinical testing

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