ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively frequent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the influence of sequence changes on RNA splicing counsel this variant may perhaps create or improve a splice web page. In summary, the obtainable evidence is at the moment inadequate to determine the function of the variant in condition. Hence, it has been categorized being a Variant of Unsure Significance.
This price is calculated by NCBI determined by info from submitters. Examine our guidelines for calculating the critique status. The number of submissions which add to this overview status is demonstrated in parentheses.
There is absolutely no functional proof in ClinVar for this variation. If you have produced useful knowledge for this variation, please contemplate publishing that info to ClinVar.
This column contains more details supporting the classification, including citations, the touch upon classification, and comprehensive proof furnished as observations in the variant by the submitter.
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Read our procedures for calculating the evaluate standing. This column also includes a link to your submitter’s assertion standards if offered, and the collection process.
The distributing Business for this submitted (SCV) record. This column also consists of the SCV accession and Variation amount, the day this SCV very first appeared in ClinVar, and also the day this SCV was final up-to-date in ClinVar.
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Stars signify the combination critique status, or the level of overview supporting the mixture germline classification for this VCV file.
The amount of variants in ClinVar for this gene, together with more compact variants throughout the gene and bigger CNVs that overlap or completely have the gene.
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