ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively frequent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the result of sequence alterations on RNA splicing counsel this variant might produce or reinforce a splice site. In summary, the offered proof is at this time insufficient to ascertain the purpose of this variant in disease. Thus, it's been categorized to be a Variant of Uncertain Significance. (much less)
The mixture germline classification for this variant, commonly for just a monogenic or Mendelian problem as from the ACMG/AMP rules, or for reaction to a drug. This worth is calculated by NCBI based upon details from submitters. Browse our regulations for calculating the combination classification.
This value is calculated by NCBI determined by facts from submitters. Study our policies for calculating the review status. The quantity of submissions which add to this evaluation standing is demonstrated in parentheses.
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The quantity of variants in ClinVar which can be contained within just this gene, using a backlink to perspective the list of variants.
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