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Stars symbolize the overview position, or the level of critique supporting the submitted (SCV) document. This price is calculated by NCBI based on knowledge from the submitter.
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Stars characterize the aggregate assessment position, or the level of assessment supporting the mixture germline classification for this VCV report.
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03%). This variant has not been described inside the literature in individuals influenced with GAA-associated disorders. ClinVar login thr777 is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the impact of sequence variations on RNA splicing recommend this variant may generate or fortify a splice web site. In summary, the out there evidence is at the moment inadequate to determine the part of the variant in sickness. Consequently, it has been labeled to be a Variant of Uncertain Significance. OK