The impact of the variant on RNA or protein functionality, according to experimental proof from submitters.

This price is calculated by NCBI determined by info from submitters. Study our rules for calculating the evaluate standing. The number of submissions which lead to this evaluation position is proven in parentheses.

This date represents the last time this VCV report was current. The update could possibly be as a result of an update to among the list of included submitted documents (SCVs), or because of an update that ClinVar created to your variant which include introducing HGVS expressions or perhaps a rs amount.

The worldwide minimal allele frequency calculated with the one thousand Genomes Venture. The minor allele at this location is indicated in parentheses and may be different from your allele represented by this VCV file.

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The aggregate germline classification for this variant, ordinarily to get a monogenic or Mendelian problem as from the ACMG/AMP guidelines, or for reaction to a drug. This value is calculated by NCBI depending on knowledge from submitters. Examine our procedures for calculating the combination classification.

Browse our procedures for calculating the critique standing. This column also includes a link to the submitter’s assertion conditions if furnished, and the collection technique.

The quantity of variants in ClinVar that happen to be contained in this gene, which has a url to check out the listing of variants.

These citations are determined by LitVar using the rs amount, so they may include things like citations for more than one variant at this spot. Make sure you assessment the LitVar success very carefully for your personal variant of curiosity. Report past updated May possibly 19, 2024 

Aberrant five' splice web pages in human disease genes: mutation sample, nucleotide framework and comparison of computational instruments that predict their utilization.

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The number of variants in ClinVar for this gene, including scaled-down variants within the gene and bigger CNVs that overlap or thoroughly incorporate the gene.

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