The influence of the variant on RNA or protein functionality, according to experimental proof from submitters.
This price is calculated by NCBI depending on information from submitters. Study our rules for calculating the evaluate standing. The number of submissions which lead to this evaluation status is shown in parentheses.
This day signifies the final time this VCV record was up to date. The update may be resulting from an update to among the provided submitted data (SCVs), or due to an update that ClinVar built towards the variant for example adding HGVS expressions or simply a rs range.
This column incorporates additional information supporting the classification, which include citations, the touch upon classification, and in depth proof presented as observations of your variant because of the submitter.
The situation for your classification, furnished by the submitter for this submitted (SCV) report. This column also incorporates the impacted status and allele origin of people observed using this type of variant.
The mixture germline classification for this variant, typically for your monogenic or Mendelian condition as within the ACMG/AMP pointers, or for reaction into a drug. This worth is calculated by NCBI according to details from submitters. Go through our policies for calculating the aggregate classification.
There are no citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, please consider distributing that information and facts to ClinVar.
The amount of variants in ClinVar that are contained in just this gene, by using a website link to watch the listing of variants.
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The volume of variants in ClinVar for this gene, like smaller variants throughout the gene and bigger CNVs that overlap or thoroughly incorporate the gene.
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Stars signify the evaluate position, or the level of review supporting the submitted (SCV) document. This worth is calculated by NCBI based on facts from your submitter.