This price is calculated by NCBI determined by details from submitters. Study our policies for calculating the critique status. The volume of submissions which add to this review standing is proven in parentheses.
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively popular explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the impact of sequence adjustments on RNA splicing propose that this variant may possibly create or bolster a splice web-site. In summary, the readily available evidence is at the moment inadequate to determine the part of this variant in illness. Therefore, it has been categorised to be a Variant of Unsure Importance. (fewer)
So this date could possibly be diverse with the day of the “most recent submission” noted at the top of this webpage. Assistance Stick to NCBI
These citations are identified by LitVar using the rs selection, so They might include things like citations for more than one variant at this spot. Please overview the LitVar success very carefully to your variant of desire. Record previous up-to-date May 19, 2024
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Aberrant 5' splice internet sites in human sickness genes: mutation pattern, nucleotide structure and comparison of computational equipment that predict their utilization.
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This day signifies the last time this VCV document was updated. The update might be as a result of an update to one of many bundled submitted data (SCVs), or on account of an update that ClinVar designed to your variant which include introducing HGVS expressions or a rs selection.
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There is absolutely no functional evidence in ClinVar for this variation. If you have created useful details for this variation, remember to consider distributing that knowledge to ClinVar.