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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the impact of sequence alterations on RNA splicing propose this variant may well create or bolster a splice web site. In summary, the offered proof is at the moment insufficient to determine the job of the variant in condition. For that reason, it's been categorised being a Variant of Uncertain Importance. (a lot less)
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There isn't a useful evidence in ClinVar for this variation. For those who have produced purposeful information for this variation, be sure to think about distributing that knowledge to ClinVar.
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The situation for that classification, furnished by the submitter for this submitted (SCV) document. This column also incorporates the affected standing and allele origin of individuals noticed using this variant.
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Stars stand for the critique status, or the extent of assessment supporting the thr777 submitted (SCV) record. This price is calculated by NCBI dependant on facts from your submitter.
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