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This day signifies the final time this VCV report was up to date. The update can be because of an update to among the list of incorporated submitted documents (SCVs), or as a result of an update that ClinVar manufactured to the variant for example incorporating HGVS expressions or maybe a rs amount.

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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively frequent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the effect of sequence alterations on RNA splicing advise this variant may perhaps produce or bolster a splice internet site. In summary, the readily available proof is currently insufficient to find out the position of the variant in disorder. Hence, it's been categorised to be a Variant of Unsure Importance. Alright

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The worldwide minimal allele frequency calculated from the 1000 Genomes Venture. The small allele at this place is indicated in parentheses and may be different from the allele represented by this VCV history.

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