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These citations are recognized by LitVar using the rs amount, so They might incorporate citations for more than one variant at this spot. You should critique the LitVar effects diligently for your personal variant of desire. Report very last updated May twelve, 2024 

The distributing Business for this submitted (SCV) history. This column also incorporates the SCV accession and Model number, the day this SCV to start with appeared in ClinVar, and the date this SCV was past up-to-date in ClinVar.

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The issue with the classification, provided by the submitter for this submitted (SCV) document. This column also contains the influenced position and allele origin of people noticed with this variant.

The volume of variants in ClinVar that happen to be contained in just this gene, with a link to see the list slot thr777 of variants.

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The aggregate germline classification for this variant, typically for the monogenic or Mendelian condition as in the ACMG/AMP rules, or for response to the drug. This worth is calculated by NCBI dependant on info from submitters. Read our policies for calculating the combination classification.

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03%). This variant has not been described within the literature in individuals influenced with GAA-related ailments. ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively common reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the outcome of sequence adjustments on RNA splicing advise that this variant may possibly generate or strengthen a splice internet site. In summary, the out there evidence is at the moment inadequate to determine the part of this variant in disorder. Therefore, it has been categorized for a Variant of Unsure Importance. Alright