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This day represents the last time this VCV record was up-to-date. The update may be due to an update to among the list of incorporated submitted data (SCVs), or due to an update that ClinVar built for the variant for instance introducing HGVS expressions or a rs amount.
The quantity of variants in ClinVar for this gene, such as scaled-down variants throughout the gene and larger CNVs that overlap or completely include the gene.
This value is calculated by NCBI based on info from submitters. Read our regulations for calculating the review status. The quantity of submissions which contribute to this overview standing is demonstrated in parentheses.
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03%). This variant has not been claimed while in the literature in folks affected with GAA-similar ailments. ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively popular reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the impact of sequence variations on RNA splicing advise that this variant may possibly produce or fortify a splice web site. In summary, the available proof is currently insufficient to ascertain the part of the variant in disorder. Consequently, it's been categorised like a Variant of Unsure Importance. OK
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