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The issue to the classification, provided by the submitter for this submitted (SCV) document. This column also features the influenced standing and allele origin of people observed with this variant.

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This value is calculated by NCBI depending on knowledge from submitters. Study our guidelines for calculating the assessment standing. The volume of submissions which contribute to this assessment status is shown in parentheses.

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This value is calculated by NCBI depending on data from submitters. Read through our guidelines for calculating the evaluation position. The volume of submissions which contribute to this review position is revealed in parentheses.

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The quantity of variants in ClinVar for this gene, which includes smaller variants throughout the gene and larger CNVs that overlap or totally comprise the gene.

03%). This variant has not been described during the literature in people today afflicted with GAA-linked ailments. ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the impact of sequence adjustments on RNA splicing recommend this variant may well make or improve a splice web-site. In summary, the readily available proof is at this time insufficient to determine the role of the variant in ailment. As a result, it's been labeled to be a Variant of Uncertain Significance. Alright

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The outcome with the variant on RNA or protein purpose, determined by experimental proof from submitters.

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