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Stars stand for the evaluate standing, or the extent of critique supporting the submitted (SCV) file. This value is calculated by NCBI based upon details through the submitter.
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence variations on RNA splicing propose that this variant may well develop or improve a splice website. In summary, the accessible proof is presently inadequate to find out the part of this variant in condition. Consequently, it's been classified for a Variant of Uncertain Significance. Okay
These citations are discovered by LitVar using the rs selection, so they may include things like citations for more than one variant at this spot. Please critique the LitVar results meticulously for your variant of fascination. Document very last updated Could 19, 2024
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Aberrant 5' splice websites in human sickness genes: mutation sample, nucleotide construction and comparison of computational applications that predict their utilization.
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Stars depict thr777 the evaluation position, or the level of evaluate supporting the submitted (SCV) file. This value is calculated by NCBI based upon info from the submitter.
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The aggregate germline classification for this variant, usually for a monogenic or Mendelian problem as while in the ACMG/AMP suggestions, or for reaction into a drug. This benefit is calculated by NCBI determined by information from submitters. Browse our policies for calculating the combination classification.
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