About thr777
About thr777
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The impact of the variant on RNA or protein operate, depending on experimental evidence from submitters.
This benefit is calculated by NCBI determined by info from submitters. Study our procedures for calculating the evaluate standing. The number of submissions which lead to this evaluation standing is shown in parentheses.
This date represents the last time this VCV report was current. The update might be as a consequence of an update to one of many involved submitted documents (SCVs), or due to an update that ClinVar created on the variant for instance introducing HGVS expressions or simply a rs number.
The worldwide insignificant allele frequency calculated because of the one thousand Genomes Undertaking. The small allele at this location is indicated in parentheses and could be unique with the allele represented by this VCV document.
The situation for that classification, provided by the submitter for this submitted (SCV) report. This column also contains the afflicted status and allele origin of people noticed with this variant.
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There aren't any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, you should take into consideration distributing that details to ClinVar.
The publishing Business for this submitted (SCV) history. This column also includes the SCV accession and Variation variety, the day this SCV initially appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.
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Stars represent the combination overview status, or the extent of overview supporting the aggregate germline classification for this VCV history.
The quantity of variants in ClinVar for this gene, such as scaled-down variants within the gene and bigger CNVs that overlap or fully incorporate the gene.
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