ClinVar Miner

Submissions for variant NC_000012.11:g.(?_133233722)_(133263945_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469651 SCV000563823 uncertain significance Colorectal cancer, susceptibility to, 12 2016-05-04 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 1-29 of the POLE gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 29 of the POLE gene. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a POLE-related disease. In summary, this is a novel duplication with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance

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