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This worth is calculated by NCBI dependant on info from submitters. Browse our guidelines for calculating the critique position. The number of submissions which lead to this critique position is shown in parentheses.

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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the outcome of sequence changes on RNA splicing recommend that this variant may well build or reinforce a splice site. In summary, the obtainable proof is at the moment inadequate to ascertain the purpose of the variant in illness. Thus, it's been labeled being a Variant of Uncertain Significance. Okay

The distributing organization for this submitted (SCV) history. This column also consists of the SCV accession and version range, the date this SCV to start with appeared in ClinVar, as well as date that this SCV was final current in ClinVar.

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So this date could be various from the day from login thr777 the “newest submission” documented at the top of this page. Enable Stick to NCBI

The global insignificant allele frequency calculated by the 1000 Genomes Venture. The minor allele at this place is indicated in parentheses and will be distinct from your allele represented by this VCV file.

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