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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively popular explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the effect of sequence variations on RNA splicing propose that this variant may possibly develop or improve a splice web-site. In summary, the out there proof is at present inadequate to determine the purpose of this variant in illness. Therefore, it has been categorised as being a Variant of Unsure Importance. (a lot less)
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This date represents the final time this VCV document was up to date. The update could be because of an update to one of several integrated submitted information (SCVs), or as a consequence of an update that ClinVar created to the variant which include including HGVS expressions or possibly a rs quantity.
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There won't be any citations for germline classification of this variant in ClinVar. If you are aware of of citations for this variation, remember to think about publishing that info to ClinVar.
ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively typical reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the impact of sequence variations on RNA splicing recommend that this variant could create or reinforce a splice web site. In summary, the readily available proof is at this time inadequate to find out the position of this variant in condition. For that reason, it's been categorized being a Variant of Uncertain Significance. Alright
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