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The mixture germline classification for this variant, commonly for a monogenic or Mendelian disorder as in the ACMG/AMP recommendations, or for response to some drug. This price is calculated by NCBI dependant on data from submitters. Examine our procedures for calculating the combination classification.
This date represents the final time this VCV record was updated. The update might be on account of an update to among the list of bundled submitted documents (SCVs), or resulting from an update that ClinVar designed into the variant which include introducing HGVS expressions or simply a rs selection.
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Stars depict the aggregate critique status, or the level of evaluate supporting the mixture germline classification for this VCV record.
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The quantity of variants in ClinVar for this gene, like more compact variants within the gene and bigger CNVs that overlap or fully contain the gene.
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The number of variants in ClinVar which are contained within just this gene, which has a hyperlink to look at the listing of variants.
These citations are recognized by LitVar using the rs selection, so They could include things like citations for more than one variant at this place. Make sure you review the LitVar results diligently in your variant of fascination. Document last up-to-date May perhaps 12, 2024
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The worldwide insignificant allele frequency calculated from the a thousand Genomes Project. The minor allele at this area is indicated in parentheses and will be diverse with the allele represented by this VCV history.
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