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The problem for that classification, provided by the submitter for this submitted (SCV) file. This column also contains the afflicted position and allele origin of individuals observed using this variant.
ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the impact of sequence variations on RNA splicing propose this variant could create or improve a splice website. In summary, the out there proof is at present inadequate to determine the position of the variant in condition. Therefore, it has been labeled as a Variant of Uncertain Importance. OK
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The worldwide minor allele frequency calculated by the 1000 Genomes Task. The insignificant allele at this place is indicated in parentheses and should be distinctive from your allele represented by this VCV report.
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This column consists of additional information supporting the classification, together with citations, the comment on classification, and in depth evidence furnished as observations of the variant through the submitter.
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The impact from the variant on RNA or protein function, according to experimental proof from submitters.
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