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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 cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the impact of sequence adjustments on RNA splicing propose that this variant might produce or reinforce a splice website. In summary, slot thr777 the obtainable evidence is presently inadequate to ascertain the position of this variant in disease. Therefore, it's been labeled like a Variant of Uncertain Importance. Okay

These citations are determined by LitVar utilizing the rs number, so they may contain citations for more than one variant at this place. Make sure you assessment the LitVar final results very carefully to your variant of curiosity. Record last current May well 19, 2024 

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Stars depict the critique standing, or the level of assessment supporting the submitted (SCV) document. This benefit is calculated by NCBI based upon knowledge from your submitter.

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