This worth is calculated by NCBI based on facts from submitters. Examine our rules for calculating the overview position. The number of submissions which add to this evaluate position is proven in parentheses.

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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively frequent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the effect of sequence changes on RNA splicing counsel this variant could produce or strengthen a splice web page. In summary, the obtainable proof is at this time insufficient to determine the job of this variant in disease. Hence, it has been classified for a Variant of Uncertain Importance. Alright

These citations are recognized by LitVar utilizing the rs quantity, so They could consist of citations for multiple variant at this location. Remember to review the LitVar benefits cautiously on your variant of desire. History final up-to-date May 19, 2024 

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The publishing Corporation for this submitted (SCV) record. This column also consists of the SCV accession and version number, the day this SCV very first appeared in ClinVar, plus the date that this SCV was previous up-to-date in ClinVar.

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Stars depict the assessment standing, or the level of evaluation supporting the submitted (SCV) file. This worth is calculated by NCBI according to knowledge through the submitter.

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