ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively popular reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the effect of sequence alterations on RNA splicing advise this variant may perhaps produce or reinforce a splice web site. In summary, the readily available proof is at the moment insufficient to determine the role of the variant in disorder. Thus, it's been categorized as being a Variant of Unsure Significance.
This price is calculated by NCBI depending on information from submitters. Read our regulations for calculating the overview status. The volume of submissions which add to this critique status is demonstrated in parentheses.
There is not any purposeful proof in ClinVar for this variation. When you've got created useful facts for this variation, you should look at distributing that knowledge to ClinVar.
This column incorporates additional information supporting the classification, which includes citations, the touch upon classification, and thorough evidence furnished as observations in the variant from the submitter.
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The aggregate germline classification for this variant, ordinarily for just a monogenic or Mendelian condition as inside the ACMG/AMP pointers, or for reaction to your drug. This benefit is calculated by NCBI dependant on data from submitters. Study our principles for calculating the aggregate classification.
There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that info to ClinVar.
The submitting Corporation for this submitted (SCV) file. This column also contains the SCV accession and version range, the date this SCV 1st appeared in ClinVar, as well as the day this SCV was previous current in ClinVar.
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The volume of variants in ClinVar for this gene, which include more thr777 compact variants throughout the gene and larger CNVs that overlap or absolutely incorporate the gene.
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Stars represent the review position, or the level of review supporting the submitted (SCV) history. This value is calculated by NCBI determined by info from the submitter.