The effect of your variant on RNA or protein purpose, based on experimental proof from submitters.
This worth is calculated by NCBI dependant on info from submitters. Browse our guidelines for calculating the assessment status. The volume of submissions which add to this evaluate position is demonstrated in parentheses.
This day represents the last time this VCV document 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 produced for the variant for instance incorporating HGVS expressions or simply a rs number.
The global insignificant allele frequency calculated via the 1000 Genomes Undertaking. The minimal allele at this spot is indicated in parentheses and will be various in the allele represented by this VCV history.
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The aggregate germline classification for this variant, generally for your monogenic or Mendelian condition as inside the ACMG/AMP rules, or for reaction to thr777 the drug. This worth is calculated by NCBI based upon info from submitters. Examine our rules for calculating the aggregate classification.
There isn't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you consider distributing that information to ClinVar.
The amount of variants in ClinVar which can be contained within this gene, by using a website link to look at the list of variants.
These citations are recognized by LitVar utilizing the rs quantity, so They might contain citations for multiple variant at this location. Be sure to evaluate the LitVar outcomes meticulously for your variant of interest. File past updated May well 19, 2024
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Stars stand for the aggregate evaluate standing, or the level of assessment supporting the aggregate germline classification for this VCV report.
The volume of variants in ClinVar for this gene, which includes lesser variants in the gene and bigger CNVs that overlap or totally include the gene.
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