ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the outcome of sequence changes on RNA splicing counsel this variant may create or fortify a splice web page. In summary, the out there evidence is at present insufficient to ascertain the position of this variant in disorder. As a result, it's been labeled being a Variant of Uncertain Importance. (significantly less)
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Stars signify the combination critique status, or the extent of assessment supporting the aggregate germline classification for this VCV report.
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