The impact in the variant on RNA or protein perform, based upon experimental proof from submitters.
This price is calculated by NCBI according to knowledge from submitters. Read through our guidelines for calculating the evaluation status. The amount of submissions which lead to this review status is proven in parentheses.
This date represents the last time this VCV history was up to date. The update may very well be resulting from an update to among the provided submitted documents (SCVs), or as a consequence of an update that ClinVar manufactured to the variant including including HGVS expressions or possibly a rs range.
The worldwide slight allele frequency calculated through the a thousand Genomes Task. The insignificant allele at this site is indicated in parentheses and should be diverse through the allele represented by this VCV document.
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There aren't any citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, remember to take into account submitting that info to ClinVar.
The quantity of variants in ClinVar which have been contained within this gene, which has a backlink to see the listing of variants.
These citations are identified by LitVar utilizing the rs amount, so They might consist of citations for multiple variant at this place. You should evaluate the LitVar effects diligently for your variant of interest. File very last up-to-date May well 19, 2024
Aberrant five' splice web sites in human disorder genes: mutation sample, nucleotide structure and comparison of computational instruments that forecast their utilization.
Stars characterize the combination review status, or the level of critique supporting the aggregate germline classification for this VCV report.
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Stars symbolize the evaluate standing, or the level of assessment supporting the submitted (SCV) document. This value is calculated by NCBI determined by details with the submitter.