ClinVar Miner

Submissions for variant NC_000014.8:g.(?_95556825)_(95563060_?)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 RCV000807253 SCV000947296 uncertain significance DICER1-related tumor predisposition 2018-12-31 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 23-27 of the DICER1 gene. The 5' boundary is likely confined to intron 22. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with DICER1-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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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