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So this date could possibly be unique within the date of the “newest submission” described at the highest of this web site. Help Abide by NCBI
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This column contains additional information supporting the classification, including citations, the comment on classification, and in depth proof furnished as observations of the variant through the submitter.
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The submitting Firm for this submitted (SCV) file. This column also contains the SCV accession and Edition quantity, the day this SCV initially appeared in ClinVar, along with the date this SCV was previous up to date in ClinVar.
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03%). This variant hasn't been documented inside the literature in people afflicted with GAA-linked situations. ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively popular reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence alterations on RNA splicing suggest that this variant may perhaps produce or strengthen slot thr777 a splice web-site. In summary, the available evidence is at this time inadequate to determine the purpose of the variant in disease. For that reason, it's been categorised as being a Variant of Uncertain Significance. Okay