The outcome in the variant on RNA or protein functionality, dependant on experimental evidence from submitters.
This price is calculated by NCBI according to details from submitters. Examine our principles for calculating the critique position. The volume of submissions which add to this overview standing is demonstrated in parentheses.
There isn't a purposeful evidence in ClinVar for this variation. Should you have generated functional information for this variation, make sure you look at submitting that information to ClinVar.
The worldwide minor allele frequency calculated by the a thousand Genomes Undertaking. The minor allele at this locale is indicated in parentheses and should be distinct in the allele represented by this VCV file.
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The aggregate germline classification for this variant, typically for your monogenic or Mendelian ailment as while in the ACMG/AMP suggestions, or for response to the drug. This value is calculated by NCBI based on knowledge from submitters. Browse our principles for calculating the aggregate classification.
There isn't any citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, remember to look at distributing that information and facts to ClinVar.
The publishing Firm for this submitted (SCV) history. This column also involves the SCV accession and Variation variety, the date this SCV to start with appeared in ClinVar, along with the date that this SCV was previous up to date in ClinVar.
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