The impact of the variant on RNA or protein functionality, according to experimental proof from submitters.
This price is calculated by NCBI depending on facts from submitters. Browse our regulations for calculating the overview status. The quantity of submissions which contribute to this evaluate standing is revealed in parentheses.
There's no practical evidence in ClinVar for this variation. When you have generated functional data for this variation, you should consider publishing that facts to ClinVar.
The worldwide small allele frequency calculated through the 1000 Genomes Challenge. The minimal allele at this site is indicated in parentheses and will be various from the allele represented by this VCV history.
The ailment to the classification, furnished by the submitter for this submitted (SCV) file. This column also includes the influenced position and allele origin of individuals observed using this type of variant.
The combination germline classification for this variant, typically for any monogenic or Mendelian problem as during the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI depending on knowledge from submitters. Examine our procedures for calculating the combination classification.
Examine our regulations for calculating the overview status. This column also features a link to your submitter’s assertion criteria if presented, and the gathering technique.
The publishing Group for this submitted (SCV) document. This column also features the SCV accession and version selection, the date this SCV to start with appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.
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Stars stand for the mixture critique standing, or the level of critique supporting the mixture germline classification for this VCV record.
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