ClinVar Miner

Submissions for variant NC_000019.10:g.(?_10819970)_(10823909_?)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 RCV001031551 SCV001194857 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2019-03-07 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 16-17 of the DNM2 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with DNM2-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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