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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively typical cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the effect of sequence changes on RNA splicing suggest this variant could create or fortify a splice internet site. In summary, the obtainable proof is at the moment inadequate to find out the role of the variant in ailment. Consequently, it's been classified being a Variant of Unsure Significance. (fewer)
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This day signifies the final time this VCV report was up-to-date. The update can be as a consequence of an update to one of the included submitted information (SCVs), or as a result of an update that ClinVar manufactured on the variant for instance incorporating HGVS expressions or maybe a rs range.
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There isn't any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, make sure you contemplate submitting that information and facts to ClinVar.
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This worth is calculated by NCBI dependant on knowledge from submitters. Read our principles for calculating the evaluate status. The amount of submissions which add to this review position is shown in link thr777 parentheses.