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This day represents the last time this VCV file was up to date. The update can be as a consequence of an update to one of the integrated submitted records (SCVs), or as a result of an update that ClinVar created to the variant such as adding HGVS expressions or simply a rs number.
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There is no purposeful proof in ClinVar for this variation. Should you have produced functional data for this variation, be sure to take into consideration distributing that details to ClinVar.
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03%). This variant hasn't been described while in the literature in folks affected with GAA-related ailments. ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively popular reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the result of sequence modifications on RNA splicing counsel that this variant may make or reinforce a splice web page. In summary, the readily available evidence is at the moment insufficient to find out the purpose of this variant in ailment. Therefore, it has been categorised like a Variant of Unsure Significance. Okay
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