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This value is calculated by NCBI based upon information from submitters. Examine our principles for calculating the evaluate status. The quantity of submissions which contribute to this assessment position is shown in parentheses.

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These citations are determined by LitVar utilizing the rs selection, so They might incorporate citations for multiple variant at this area. Make sure you critique the LitVar results cautiously for your variant of fascination. Report final up-to-date May possibly 19, 2024 

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The submitting Business for this submitted (SCV) file. This column also features the SCV accession and Variation selection, the date this SCV initially appeared in ClinVar, and also the date this SCV was very last up to date in ClinVar.

This column features more details supporting the classification, which include citations, the comment on classification, and thorough proof presented as observations on the variant through the submitter.

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This sequence change impacts codon 777 of your GAA mRNA. It's a 'silent' adjust, this means that it doesn't alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, which can be Component of the consensus splice website for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented from the literature in individuals afflicted with GAA-linked problems.

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