ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the outcome of sequence adjustments on RNA splicing propose that this variant may well produce or bolster a splice internet site. In summary, the out there proof is now inadequate to determine the part of this variant in condition. As a result, it has been labeled for a Variant of Uncertain Significance.
This price is calculated by NCBI determined by info from submitters. Study our guidelines for calculating the review standing. The amount of submissions which add to this overview status is demonstrated in parentheses.
There isn't a useful evidence in ClinVar for this variation. In case you have created purposeful details for this variation, please think about submitting that info to ClinVar.
This column consists of more details supporting the classification, together with citations, the comment on classification, and comprehensive proof provided as observations of your variant with the submitter.
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There are thr777 no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please think about publishing that information and facts to ClinVar.
The distributing organization for this submitted (SCV) report. This column also contains the SCV accession and Variation variety, the day this SCV 1st appeared in ClinVar, and also the day this SCV was final current in ClinVar.
These citations are recognized by LitVar utilizing the rs variety, so They could contain citations for multiple variant at this location. Remember to review the LitVar final results diligently to your variant of fascination. History final up to date May well 19, 2024
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Stars signify the combination critique status, or the extent of critique supporting the aggregate germline classification for this VCV history.
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Stars symbolize the assessment standing, or the level of evaluate supporting the submitted (SCV) history. This price is calculated by NCBI based upon facts in the submitter.