The result on the variant on RNA or protein perform, based upon experimental evidence from submitters.
This value is calculated by NCBI according to facts from submitters. Study our rules for calculating the review standing. The number of submissions which add to this assessment status is proven in parentheses.
This day represents the last time this VCV file was updated. The update might be due to an update to one of many incorporated submitted documents (SCVs), or on account of an update that ClinVar created for the variant like adding HGVS expressions or even a rs selection.
The global minor allele frequency calculated by the a thousand Genomes Task. The slight allele at this place is indicated in parentheses and may be distinctive with the allele represented by this VCV file.
The situation with the classification, provided by the submitter for this submitted (SCV) history. This column also contains the afflicted status and allele origin of individuals noticed with this variant.
The mixture germline classification for this variant, typically for any monogenic or Mendelian dysfunction as during the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI determined by facts from submitters. Browse our procedures for calculating the combination classification.
Read our rules for calculating the evaluate standing. This column also includes a link into the submitter’s assertion standards if presented, and the collection process.
The submitting Group for this submitted (SCV) thr777 history. This column also incorporates the SCV accession and Model quantity, the day this SCV very first appeared in ClinVar, and the date that this SCV was previous updated 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.
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The number of variants in ClinVar for this gene, together with more compact variants inside the gene and bigger CNVs that overlap or completely comprise the gene.
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Stars signify the evaluate position, or the level of evaluation supporting the submitted (SCV) document. This value is calculated by NCBI determined by facts with the submitter.