ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively prevalent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the outcome of sequence changes on RNA splicing advise this variant may possibly develop or bolster a splice web page. In summary, the obtainable evidence is at the moment inadequate to determine the purpose of this variant in disorder. As a result, it has been labeled as a Variant of Unsure Importance. (significantly less)

The combination germline classification for this variant, commonly for a monogenic or Mendelian condition as while in the ACMG/AMP rules, or for response to a drug. This value is calculated by NCBI depending on info from submitters. Read through our procedures for calculating the aggregate classification.

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These citations are identified by LitVar using the rs quantity, so they may contain citations for more than one variant at this area. Be sure to review the LitVar results carefully for the variant of interest. History past current May perhaps 19, 2024 

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Stars stand for the critique standing, or the level of review supporting the submitted (SCV) history. This benefit is calculated by NCBI depending on info from your submitter.

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