ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the outcome of sequence adjustments on RNA splicing advise that this variant may well make or fortify a splice web page. In summary, the accessible evidence is presently inadequate to ascertain the job of the variant in ailment. For that reason, it's been categorised for a Variant of Unsure Significance.
This value is calculated by NCBI dependant on facts from submitters. Read through our principles for calculating the evaluation position. The amount of submissions which add to this evaluate standing is revealed in parentheses.
There is no functional proof in ClinVar for this variation. If you have created functional facts for this variation, you should look at distributing that knowledge to ClinVar.
This column features additional information supporting the classification, like citations, the comment on classification, and specific evidence delivered as observations on the variant from the submitter.
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There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to take into account publishing that information and facts to ClinVar.
The volume of variants in ClinVar that happen to be contained in just this gene, having a url to check out the listing of variants.
These citations are recognized by LitVar utilizing the rs amount, so They could contain citations for multiple variant at this place. You should evaluation the LitVar effects very carefully for your personal variant of curiosity. File past updated May possibly 19, 2024
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Stars represent the combination overview status, or the extent of assessment supporting the aggregate germline classification for this VCV report.
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