ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively frequent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the influence of sequence improvements on RNA splicing advise that this variant might create or bolster a splice internet site. In summary, the offered evidence is now inadequate to determine the job of this variant in illness. Hence, it has been labeled as being a Variant of Unsure Significance. (fewer)
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Stars signify the assessment standing, or the level of overview supporting the submitted (SCV) history. This benefit is calculated by NCBI according to knowledge with the submitter.
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So this day may be various within the day of your “most up-to-date submission” noted at the highest of this website page. Help Comply with NCBI
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