The impact from the variant on RNA or protein function, according to experimental proof from submitters.
This price is calculated by NCBI based on facts from submitters. Examine our rules for calculating the evaluation position. The volume of submissions which lead to this evaluation position is shown in parentheses.
There isn't a useful evidence in ClinVar for this variation. Should you have generated purposeful data for this variation, make sure you look at submitting that info to ClinVar.
The worldwide minor allele frequency calculated through the one thousand Genomes Task. The small allele at this site is indicated in parentheses and should be diverse with the allele represented by this VCV file.
The situation with the classification, provided by the submitter for this submitted (SCV) history. This column also contains the afflicted status and allele origin of people noticed with this particular variant.
The aggregate germline classification for this variant, normally for the monogenic or Mendelian dysfunction as from the ACMG/AMP guidelines, or for reaction to a drug. This value is calculated by NCBI depending on knowledge from submitters. Read through our regulations for calculating the combination classification.
Study our guidelines for calculating the evaluation position. This column also features a website link towards the submitter’s assertion criteria if delivered, and the collection approach.
The publishing Business for this submitted (SCV) history. This column also incorporates the SCV accession and version selection, the date this SCV very first appeared in ClinVar, and the date this SCV was final up-to-date in ClinVar.
These citations are determined by thr777 LitVar using the rs variety, so They could contain citations for multiple variant at this spot. Please overview the LitVar results meticulously for your variant of interest. File past updated May possibly 19, 2024
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