New Step by Step Map For thr777
New Step by Step Map For thr777
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The outcome on the variant on RNA or protein purpose, determined by experimental proof from submitters.
This worth is calculated by NCBI dependant on knowledge from submitters. Read through our principles for calculating the evaluation position. The quantity of submissions which add to this critique position is revealed in parentheses.
This day represents the final time this VCV document was up-to-date. The update may be due to an update to one of many included submitted information (SCVs), or as a result of an update that ClinVar made to your variant including introducing HGVS expressions or simply a rs quantity.
The global small allele frequency calculated from the a thousand Genomes Venture. The insignificant allele at this site is indicated in parentheses and could be unique from your allele represented by this VCV file.
The issue to the classification, supplied by the submitter for this submitted (SCV) history. This column also contains the influenced status and allele origin of individuals noticed using this type of variant.
The aggregate germline classification for this variant, ordinarily for your monogenic or Mendelian problem as within the ACMG/AMP suggestions, or for response to your drug. This price is calculated by NCBI determined by information from submitters. Examine our procedures for calculating the aggregate classification.
Go through our rules for calculating the assessment position. This column also features a url on the submitter’s assertion standards if furnished, and the gathering approach.
The amount of variants in ClinVar which have been contained within this gene, using a backlink to see the listing of variants.
These citations are recognized by LitVar utilizing the rs number, so They could incorporate citations for more than one variant at this location. You should critique the LitVar effects very carefully for your variant of curiosity. Document last up to date May possibly 19, 2024
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Stars depict the aggregate evaluate status, or the level of evaluate supporting the mixture germline classification for this VCV history.
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