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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively prevalent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the influence of sequence alterations on RNA splicing recommend this variant could create or improve a splice web site. In summary, the accessible proof is now insufficient to ascertain the position of the variant in condition. Therefore, it has been categorised like a Variant of Unsure Significance. (considerably less)
So this date might be distinct in the date in the “newest submission” documented at the highest of the site. Support Stick to NCBI
Stars signify the combination evaluation position, or the level of evaluate supporting the aggregate germline classification for this VCV report.
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The volume of variants in ClinVar which might be contained inside this gene, using a link to view the list of variants.
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