The influence on the variant on RNA or protein perform, determined by experimental evidence from submitters.
This benefit is calculated by NCBI based upon data from submitters. Study our procedures for calculating the critique status. The number of submissions which add to this evaluation position is proven in parentheses.
This date represents the last time this VCV history was current. The update could be because of an update to among the list of included submitted records (SCVs), or as a result of an update that ClinVar built to the variant which include adding HGVS expressions or even a rs variety.
The worldwide minimal allele frequency calculated with the one thousand Genomes Project. The minor allele at this locale is indicated in parentheses and should be diverse from your allele represented by this VCV record.
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The aggregate germline classification for this variant, commonly for any monogenic or Mendelian disorder as from the ACMG/AMP suggestions, or for reaction to some drug. This price is calculated by NCBI according to facts from submitters. Go through our procedures for calculating the aggregate classification.
There isn't any citations for germline classification of the variant in ClinVar. If you understand of citations for this variation, be sure to think about publishing that information and facts to ClinVar.
The submitting Corporation for this submitted (SCV) report. This column also consists of the SCV accession and Variation amount, the day this SCV very first appeared in ClinVar, and the day this SCV was previous current in ClinVar.
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Aberrant five' splice web pages in human disease genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
Stars signify the combination critique status, or the extent of assessment supporting the aggregate germline classification for this VCV report.
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Stars represent the review position, or the thr777 level of assessment supporting the submitted (SCV) document. This value is calculated by NCBI based on details within the submitter.