The effect in the variant on RNA or protein perform, depending on experimental proof from submitters.
This value 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 demonstrated in parentheses.
There is absolutely no useful evidence in ClinVar for this variation. In case you have produced functional information for this variation, make sure you contemplate publishing that details to ClinVar.
The global minor allele frequency calculated from the a thousand Genomes Task. The insignificant allele at this locale is indicated in parentheses and should be distinct from the allele represented by this VCV history.
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The combination germline classification for this variant, usually for any monogenic or Mendelian dysfunction as during the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI depending on knowledge from submitters. Read through our regulations for calculating the combination classification.
Go through our principles for calculating the assessment status. This column also features a url on the submitter’s assertion requirements if provided, and the gathering approach.
The number of variants in ClinVar that are contained in just this gene, by using a website link to view the listing of variants.
These citations are determined by LitVar using the rs range, so They might contain citations for multiple variant at this thr777 site. Make sure you critique the LitVar outcomes thoroughly for the variant of curiosity. Report last up to date May possibly 19, 2024
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Stars symbolize the aggregate evaluate standing, or the extent of critique supporting the aggregate germline classification for this VCV history.
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Stars depict the overview status, or the extent of evaluate supporting the submitted (SCV) history. This price is calculated by NCBI determined by knowledge from your submitter.