This worth is calculated by NCBI dependant on knowledge from submitters. Read our policies for calculating the review position. The amount of submissions which lead to this evaluate status is proven in parentheses.
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively prevalent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the effect of sequence improvements on RNA splicing propose that this variant may well develop or strengthen a splice web-site. In summary, the obtainable proof is at the moment inadequate to ascertain the position of the variant in ailment. Consequently, it's been categorised like a Variant of Unsure Significance. (a lot less)
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The worldwide slight allele frequency calculated by the one thousand Genomes Job. The minor allele at this area is indicated in parentheses and should be different from your allele represented by this VCV report.
The mixture germline classification for this variant, ordinarily for your monogenic or Mendelian ailment as within the ACMG/AMP rules, or for reaction into a drug. This value is calculated by NCBI based on facts from submitters. Read through our principles for calculating the combination classification.
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