thr777 - An Overview
thr777 - An Overview
Blog Article
ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the influence of sequence changes on RNA splicing recommend that this variant might develop or bolster a splice internet site. In summary, the out there proof is currently inadequate to ascertain the purpose of this variant in condition. As a result, it has been categorised for a Variant of Uncertain Importance.
This benefit is calculated by NCBI based upon knowledge from submitters. Go through our guidelines for calculating the review standing. The amount of submissions which add to this assessment position is proven in parentheses.
This date signifies the final time this VCV history was up-to-date. The update may be resulting from an update to among the list of provided submitted information (SCVs), or due to an update that ClinVar built on the variant like introducing HGVS expressions or possibly a rs quantity.
The worldwide slight allele frequency calculated through the a thousand Genomes Task. The small allele at this place is indicated in parentheses and could be distinctive from the allele represented by this VCV file.
The issue for your classification, furnished by the submitter for this submitted (SCV) document. This column also features the impacted position and allele origin of people observed using this variant.
The aggregate germline classification for this variant, typically for just a monogenic or Mendelian dysfunction as inside the ACMG/AMP tips, or for response to some drug. This worth is calculated by NCBI determined by facts from submitters. Examine our procedures for calculating the combination classification.
Examine our policies for calculating the overview status. This column also features a backlink to your submitter’s assertion requirements if supplied, and the collection technique.
The publishing Business for this submitted (SCV) record. This column also involves the SCV accession and Edition selection, the day this SCV to start with appeared in ClinVar, and also the day that this SCV was very last current in ClinVar.
These citations are identified by LitVar using the rs number, so They might include citations for more than one variant at this locale. Make thr777 sure you critique the LitVar success meticulously for your personal variant of curiosity. File past updated Could 19, 2024
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Stars represent the mixture evaluation position, or the level of critique supporting the aggregate germline classification for this VCV report.
The positioning is protected. The https:// ensures that you will be connecting to the official Internet site Which any information you give is encrypted and transmitted securely.
The internet site is secure. The https:// assures that you will be connecting to the official Site and that any data you deliver is encrypted and transmitted securely.
Stars represent the review position, or the extent of overview supporting the submitted (SCV) record. This benefit is calculated by NCBI based upon knowledge with the submitter.