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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively popular reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the result of sequence changes on RNA splicing advise this variant may build or fortify a splice web page. In summary, the accessible evidence is at present inadequate to find out the position of this variant in disorder. Therefore, it's been classified as a Variant of Unsure Importance. Okay
These citations are determined by LitVar utilizing the rs variety, so they may include citations for more than one variant at this area. Please critique the LitVar benefits meticulously for the variant of fascination. Document past up-to-date Might 19, 2024
These citations are determined by LitVar utilizing the rs quantity, so They could consist of citations for more than one variant at this location. Remember to assessment the LitVar success very carefully for your personal variant of fascination. Record final up to date May possibly 12, 2024
The submitting Corporation for this submitted (SCV) history. This column also features the SCV accession and Model variety, the date this SCV very first appeared in ClinVar, as well as day that this SCV was previous updated in ClinVar.
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The affliction for the classification, supplied by the submitter for this submitted (SCV) report. This column also includes the impacted standing and allele origin of individuals observed using this variant.
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Stars characterize the evaluation position, or the level of overview supporting the submitted (SCV) document. This benefit is calculated by NCBI based upon info from the submitter.
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There's no useful proof in ClinVar for this variation. If you have generated practical knowledge for this variation, be sure to contemplate distributing that facts to ClinVar.