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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively typical explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the outcome of sequence improvements on RNA splicing counsel that this variant could generate or improve a splice website. In summary, the accessible proof is at the moment inadequate to ascertain the role of the variant in condition. As a result, it's been labeled to be a Variant of Unsure Significance. Alright
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These citations are discovered by LitVar utilizing the rs number, so they may involve citations for multiple variant at this location. Please evaluation the LitVar final results meticulously on your variant of fascination. File very last up-to-date May well twelve, 2024
The submitting organization for this submitted (SCV) history. This column also features the SCV accession and Model variety, the day this SCV very first appeared in ClinVar, as well as the date this SCV was previous updated in ClinVar.
This column includes more details supporting the classification, which include citations, the touch upon classification, and comprehensive proof presented as observations in the variant because of the submitter.
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The number of variants in ClinVar which can be contained within just this gene, which has a link to watch the listing of variants.
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The combination germline classification for this variant, normally for just a monogenic or Mendelian problem as within the ACMG/AMP rules, or for response to the drug. This worth is calculated by NCBI dependant on knowledge from submitters. Read our policies for calculating the aggregate classification.
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