Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Division of Medical Genetics, |
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. |