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The outcome of the variant on RNA or protein perform, based upon experimental evidence from submitters.

This worth is calculated by NCBI depending on details from submitters. Browse our procedures for calculating the review status. The volume of submissions which add to this critique standing is demonstrated in parentheses.

This date represents the last time this VCV document was up-to-date. The update might be because of an update to on the list of involved submitted information (SCVs), or as a consequence of an update that ClinVar produced for the variant like adding HGVS expressions or a rs amount.

The global minor allele frequency calculated through the a thousand Genomes Project. The minor allele at this locale is indicated in parentheses and may be distinct from your allele represented by this VCV report.

The problem for that classification, provided by the submitter for this submitted (SCV) report. This column also involves the affected standing and allele origin of individuals observed using this variant.

The combination germline classification for this variant, usually to get a monogenic or Mendelian condition as during the ACMG/AMP recommendations, or for response to your drug. This price is calculated by NCBI based on information from submitters. Browse our principles for calculating the aggregate classification.

Read through our regulations for calculating the review status. This column also features a link for the submitter’s assertion requirements if supplied, and the gathering process.

The number of variants in ClinVar that are contained in just this gene, with a backlink to view the listing of variants.

These citations are identified by LitVar utilizing the rs selection, so they may contain citations for multiple variant at this spot. Make sure you critique the LitVar benefits diligently to your variant of interest. File very last current Might 19, 2024 

Aberrant 5' splice internet thr777 sites in human disorder genes: mutation sample, nucleotide structure and comparison of computational equipment that predict their utilization.

Stars stand for the aggregate review standing, or the extent of evaluate supporting the combination germline classification for this VCV report.

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