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This date signifies the final time this VCV history was updated. The update could be resulting from an update to one of the integrated submitted information (SCVs), or on account of an update that ClinVar designed into the variant like introducing HGVS expressions or simply a rs number.
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This column consists of more information supporting the classification, which includes citations, the comment on classification, and thorough proof furnished as observations with the variant with the submitter.
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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 frequent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the impact of sequence alterations on RNA splicing advise this variant may possibly make or improve a splice web page. In summary, the available proof is presently insufficient to find out the position of this variant in ailment. For that reason, it has been classified as being a Variant of Unsure Importance. Okay
These citations are identified by LitVar using the rs amount, so They might incorporate citations for multiple variant at this site. Remember to evaluate the LitVar effects cautiously for your variant login thr777 of desire. Document final up to date Could 19, 2024
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The impact of the variant on RNA or protein functionality, based on experimental proof from submitters.
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