ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the influence of sequence improvements on RNA splicing advise this variant might generate or bolster a splice internet site. In summary, the obtainable evidence is currently inadequate to find out the part of this variant in sickness. Thus, it's been categorized for a Variant of Unsure Importance. (less)

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This value is calculated by NCBI according to knowledge from submitters. Go through our policies for calculating the critique position. The number of submissions which lead to this evaluate position is revealed in parentheses.

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The condition for your classification, supplied by the submitter for this submitted (SCV) file. This column also incorporates the afflicted position and allele origin of people noticed using this type of variant.

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These citations are determined by LitVar utilizing the rs number, so they may contain citations for more than one variant at this spot. Please evaluation the LitVar benefits thoroughly for your variant of interest. History very last up-to-date May 12, 2024 

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Stars stand for the combination evaluate position, or the extent of overview supporting the mixture germline classification for this VCV file.

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