thr777 Options
thr777 Options
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The influence on the variant on RNA or protein operate, based upon experimental evidence from submitters.
This value is calculated by NCBI dependant on facts from submitters. Go through our guidelines for calculating the review standing. The amount of submissions which add to this overview status is revealed in parentheses.
This date represents the final time this VCV history was updated. The update can be because of an update to among the list of included submitted records (SCVs), or as a result of an update that ClinVar designed into the variant like adding HGVS expressions or even a rs variety.
The global minor allele frequency calculated via the one thousand Genomes Task. The small allele at this place is indicated in parentheses and could be unique within the allele represented by this VCV report.
The condition with the classification, provided by the submitter for this submitted (SCV) file. This column also incorporates the affected status and allele origin of individuals noticed with this particular variant.
The aggregate germline classification for this variant, ordinarily for just a monogenic or Mendelian dysfunction as in the ACMG/AMP rules, or for response to the drug. This value is calculated by NCBI based on data from submitters. Study our principles for calculating the mixture classification.
There isn't any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, make sure you take into consideration submitting that details to ClinVar.
The publishing Group for thr777 this submitted (SCV) document. This column also includes the SCV accession and Model quantity, the day this SCV 1st appeared in ClinVar, as well as the date this SCV was last up-to-date in ClinVar.
These citations are identified by LitVar using the rs range, so They could contain citations for multiple variant at this locale. Make sure you critique the LitVar results meticulously in your variant of desire. History very last up-to-date May perhaps 19, 2024
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Stars symbolize the aggregate evaluation status, or the level of assessment supporting the aggregate germline classification for this VCV record.
The number of variants in ClinVar for this gene, which include more compact variants within the gene and bigger CNVs that overlap or fully have the gene.
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