The outcome on the variant on RNA or protein functionality, determined by experimental proof from submitters.
This worth is calculated by NCBI determined by facts from submitters. Read our principles for calculating the evaluate position. The amount of submissions which add to this critique status is proven in parentheses.
There's no purposeful proof in ClinVar for this variation. If you have produced practical facts for this variation, be sure to think about distributing that information to ClinVar.
The global slight allele frequency calculated via the one thousand Genomes Job. The small allele at this locale is indicated in parentheses and will be unique within the allele represented by this VCV document.
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The aggregate germline classification for this variant, usually for a monogenic or Mendelian disorder as inside the ACMG/AMP guidelines, or for reaction to your drug. This benefit is calculated by NCBI based upon data from submitters. Go through our principles for calculating the mixture classification.
Read our procedures for calculating the evaluate standing. This column also includes a hyperlink to the submitter’s assertion conditions if furnished, and the collection method.
The publishing Business for this submitted (SCV) history. This column also involves the SCV accession and version range, the date this SCV initially appeared in ClinVar, as well as the day this SCV was previous current in ClinVar.
These citations are recognized by LitVar utilizing the rs quantity, so They might include citations for more than one variant at this locale. Make sure you critique the LitVar outcomes carefully in your variant of interest. Document last updated Could 19, 2024
Aberrant five' splice sites in human disease genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
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The quantity of variants in ClinVar for this gene, such as scaled-down variants inside the gene and bigger CNVs that overlap or completely consist of the gene.
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Stars represent the review position, or the level of assessment supporting the submitted (SCV) document. This value is calculated by NCBI based on details within the submitter.