The effect with the variant on RNA or protein function, depending on experimental evidence from submitters.
This worth is calculated by NCBI depending on facts from submitters. Examine our procedures for calculating the overview standing. The volume of submissions which lead to this assessment standing is shown in parentheses.
This day signifies the final time this VCV record was up to date. The update can be as a result of an update to on the list of integrated submitted information (SCVs), or on account of an update that ClinVar built to the variant like including HGVS expressions or a rs quantity.
The global insignificant allele frequency calculated through the a thousand Genomes Challenge. The minimal allele at this site is indicated in parentheses and will be various in the allele represented by this VCV history.
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Examine our regulations for calculating the overview status. This column also includes a url to your submitter’s assertion standards if provided, and the collection method.
The quantity of variants in ClinVar that are contained inside this gene, by using a backlink to see the listing of variants.
These citations are discovered by LitVar utilizing the rs number, so they may incorporate citations for multiple variant at this location. Remember to evaluate the LitVar final results diligently to your variant of fascination. History final up to date May well 19, 2024
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Stars symbolize the aggregate evaluate standing, or the level of critique supporting the mixture germline classification for this VCV record.
The amount of variants in ClinVar for this gene, like scaled-down variants throughout the gene and bigger CNVs that overlap or entirely consist of the gene.
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