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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the result of sequence modifications on RNA splicing counsel that this variant may make or reinforce a splice web page. In summary, the readily available proof is currently insufficient to ascertain the part of the variant in condition. Hence, it has been labeled as being a Variant of Unsure Significance. (less)
So this day may very well be distinct from your date from the “newest submission” described at the highest of this webpage. Assist Abide by NCBI
So this day may be various in the date of your “newest submission” claimed at the top of this webpage. Aid Stick to NCBI
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This day signifies the last time this VCV file was up to date. The update could be as a result of an update to one of many incorporated submitted information (SCVs), or because of an update that ClinVar manufactured on the variant including adding HGVS expressions or a rs range.
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