ClinVar Miner

Submissions for variant NC_000002.11:g.(?_47596287)_(47614167_?)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 RCV000457526 SCV000563992 uncertain significance Lynch syndrome 2016-10-24 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the EPCAM gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Duplications of the entire EPCAM sequence have not been reported in the literature in individuals with an EPCAM-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on EPCAM protein function has not been established. Therefore, it has been classified as a Variant of Unknown Significance.

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