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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a relatively popular reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the influence of sequence alterations on RNA splicing recommend this variant could produce or bolster a splice website. In summary, the out there evidence is currently inadequate to ascertain the position of the variant in disorder. As a result, it has been labeled for a Variant of Unsure Significance. (much less)
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The global minimal allele frequency calculated with the a thousand Genomes Venture. The minimal allele at this location is indicated in parentheses and will be diverse within the allele represented by this VCV document.
The mixture germline classification for this variant, ordinarily for any monogenic or Mendelian ailment as inside the ACMG/AMP pointers, or for reaction to the drug. This worth is calculated by NCBI based upon data from submitters. Read through our procedures for calculating the aggregate classification.
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The publishing Group for this submitted (SCV) report. This column also involves the SCV accession and Edition quantity, the day this SCV initially appeared in ClinVar, plus the date this SCV was previous updated in ClinVar.
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The outcome in the variant on RNA or protein functionality, determined by experimental evidence from submitters.
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