5 Easy Facts About thr777 Described
5 Easy Facts About thr777 Described
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the impact of sequence variations on RNA splicing suggest this variant may produce or bolster a splice internet site. In summary, the out there proof is at this time inadequate to find out the part of this variant in condition. For that reason, it has been classified to be a Variant of Unsure Significance.
This benefit is calculated by NCBI determined by knowledge from submitters. Study our guidelines for calculating the review standing. The number of submissions which add to this assessment position is proven in parentheses.
There is no useful proof in ClinVar for this variation. For those who have produced practical knowledge for this variation, you should contemplate distributing that knowledge to ClinVar.
The worldwide minimal allele frequency calculated by the a thousand Genomes Project. The small allele at this location is indicated in parentheses and should be distinct from your allele represented by this VCV history.
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The mixture germline classification for this variant, typically to get a monogenic or Mendelian ailment as during the ACMG/AMP tips, or for reaction to some drug. This benefit is calculated by NCBI determined by facts from submitters. Go through our guidelines for calculating the combination classification.
There won't be any citations for germline classification of the variant in ClinVar. If you understand of citations for this variation, please think about publishing that info to ClinVar.
The submitting Business for this submitted (SCV) document. This column also consists of the SCV accession and Model range, the day this SCV 1st appeared in ClinVar, plus the day this SCV was past up to date in ClinVar.
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Stars represent the combination overview standing, or the extent of assessment supporting the aggregate germline classification for this VCV report.
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Stars stand for the evaluate position, or the level of overview supporting thr777 the submitted (SCV) report. This value is calculated by NCBI according to data from the submitter.