ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.6531+5G>T

dbSNP: rs368538240
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Medical Genetics, University of Washington RCV001250444 SCV001424822 uncertain significance Colorectal cancer, susceptibility to, 12 2019-03-22 criteria provided, single submitter clinical testing To our knowledge, this sequence variant has not been previously reported in the literature. The c.6531+5G>A variant affects a nucleotide in the consensus splice site of the intron and is predicted to lead to abberant splicing. The c.6531+5G>A variant has an allele frequency of 0.00006 in the Broad Institute ExAC Browser (http://exac.broadinstitute.org/). Thus, it is unknown at this time whether this variant increases cancer risk.

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