ClinVar Miner

Submissions for variant NC_000002.11:g.(?_47596287)_(47604216_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468615 SCV000563996 uncertain significance Lynch syndrome 2016-04-07 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 1-5 of the EPCAM gene, which includes the initiator codon. 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 5 of the EPCAM gene. This variant has not been reported in the literature in individuals with an EPCAM-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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