The result in the variant on RNA or protein function, determined by experimental evidence from submitters.
This benefit is calculated by NCBI determined by info from submitters. Study our rules for calculating the evaluate position. The amount of submissions which add to this critique status is demonstrated in parentheses.
This date represents the last time this VCV report was current. The update could be because of an update to among the list of bundled submitted records (SCVs), or as a result of an update that ClinVar manufactured into the variant such as adding HGVS expressions or possibly a rs range.
The worldwide insignificant allele frequency calculated via the one thousand Genomes Undertaking. The small allele at this location is indicated in parentheses and could be unique through the allele represented by this VCV document.
The problem for the classification, supplied by the submitter for this submitted (SCV) document. This column also incorporates the impacted position and allele origin of individuals observed with this variant.
The combination germline classification for this variant, generally for just a monogenic or Mendelian ailment as inside the ACMG/AMP pointers, or for reaction to your drug. This benefit is calculated by NCBI based on information from submitters. Study our principles for calculating the mixture classification.
Study our guidelines for calculating the review position. This column also includes a website link towards the submitter’s assertion criteria if delivered, and the collection technique.
The submitting Group for this submitted (SCV) document. This column also includes the SCV accession and Model quantity, the day this SCV initial appeared in ClinVar, as well as date this SCV was last up to date in ClinVar.
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