ClinVar Miner

Submissions for variant NC_000017.10:g.(?_78078341)_(78093140_?)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 RCV000801990 SCV000941796 uncertain significance Glycogen storage disease, type II 2019-10-29 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the GAA 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. This variant has not been reported in the literature in individuals with GAA-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the whole gene duplication 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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