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03%). This variant has not been noted within the literature in persons impacted with GAA-associated circumstances. ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively frequent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the effect of sequence variations on RNA splicing advise that this variant may perhaps generate or reinforce a splice web page. In summary, the offered evidence is presently inadequate to determine the purpose of this variant in disorder. Consequently, it's been classified being a Variant of Unsure Significance. Okay

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Stars represent the aggregate review position, or the extent of evaluate supporting the combination germline classification for this VCV report.

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