The impact of the variant on RNA or protein functionality, based on experimental proof from submitters.
This worth is calculated by NCBI according to data from submitters. Browse our regulations for calculating the overview status. The quantity of submissions which contribute to this evaluate standing is revealed in parentheses.
There is no functional proof in ClinVar for this variation. When you've got created useful facts for this variation, you should look at distributing that info to ClinVar.
The global minor allele frequency calculated by the a thousand Genomes Job. The slight allele at this area is indicated in parentheses and may be distinctive with the allele represented by this VCV file.
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There won't be any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, you should look at distributing that data to ClinVar.
The amount of variants in ClinVar which are contained in just this gene, that has a url to see the listing of variants.
These citations are discovered by LitVar using the rs variety, so thr777 They could incorporate citations for multiple variant at this place. You should review the LitVar benefits carefully to your variant of fascination. Record final up to date May well 19, 2024
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Stars depict the aggregate evaluate standing, or the level of critique supporting the mixture germline classification for this VCV record.
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Stars represent the review position, or the extent of assessment supporting the submitted (SCV) document. This worth is calculated by NCBI based upon facts with the submitter.