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Stars stand for the overview status, or the extent of critique supporting the submitted (SCV) file. This value is calculated by NCBI determined by information with the submitter.
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the impact of sequence alterations on RNA splicing propose that this variant may possibly generate or improve a splice web-site. In summary, the readily available proof is at the moment insufficient to determine the function of this variant in disease. Therefore, it's been labeled being a Variant of Uncertain Importance. Okay
These citations are identified by LitVar using the rs quantity, so they may contain citations for more than one variant at this place. slot thr777 Remember to critique the LitVar outcomes very carefully in your variant of interest. Document final up to date Could 19, 2024
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Stars characterize the combination evaluate status, or the extent of evaluate supporting the aggregate germline classification for this VCV document.
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