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This column involves more info supporting the classification, like citations, the comment on classification, and in depth evidence offered as observations in the variant because of the submitter.
This worth is calculated by NCBI according to info from submitters. Go through our principles for calculating the overview position. The amount of submissions which lead to this review position is proven in parentheses.
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03%). This variant hasn't been reported inside the literature in men and women afflicted with GAA-similar situations. ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively popular explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the impact of sequence modifications on RNA splicing suggest that this variant might produce or strengthen a splice web site. In summary, the offered proof is currently inadequate to find out the part of the variant in condition. Therefore, it has been categorised being a Variant of Unsure Significance. Okay
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The outcome on the variant on RNA or protein function, determined by experimental proof from submitters.
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