The impact in the variant on RNA or protein function, based upon experimental evidence from submitters.
This value is calculated by NCBI based on info from submitters. Examine our rules for calculating the critique position. The quantity of submissions which contribute to this critique position is revealed in parentheses.
There is absolutely no useful proof in ClinVar for this variation. When you've got produced functional info for this variation, you should look at distributing that details to ClinVar.
This column includes more info supporting the classification, which includes citations, the comment on classification, and in depth evidence offered as observations of the variant by the submitter.
The condition for your classification, furnished by the submitter for this submitted (SCV) document. This column also includes the influenced position and allele origin of individuals noticed with this variant.
The mixture germline classification for this variant, generally for the monogenic or Mendelian disorder as while in the ACMG/AMP rules, or for reaction to some drug. This worth is calculated by NCBI based upon details from submitters. Study our principles for calculating the mixture classification.
Examine our rules for calculating the critique standing. This column also includes a website link for the submitter’s assertion requirements if presented, and the gathering process.
The submitting Corporation for this submitted (SCV) report. This column also contains the SCV accession and Variation variety, the day this SCV 1st appeared in ClinVar, and also the day that this SCV was past up to date in ClinVar.
These citations are identified by LitVar using the rs selection, so they may include things like citations for more than one variant at this spot. Be sure to overview the LitVar success meticulously for your variant thr777 of curiosity. File past updated Could 19, 2024
Aberrant 5' splice web sites in human condition genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
Stars characterize the mixture evaluation standing, or the extent of review supporting the mixture germline classification for this VCV file.
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Stars signify the assessment status, or the extent of critique supporting the submitted (SCV) report. This price is calculated by NCBI determined by data with the submitter.