Not known Factual Statements About thr777
Not known Factual Statements About thr777
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The outcome with the variant on RNA or protein purpose, dependant on experimental evidence from submitters.
This value is calculated by NCBI based on details from submitters. Read our procedures for calculating the critique standing. The number of submissions which lead to this evaluation position is proven in parentheses.
There isn't a purposeful evidence in ClinVar for this variation. If you have generated functional knowledge for this variation, please take into account distributing that knowledge to ClinVar.
The global minor allele frequency calculated from the a thousand Genomes Undertaking. The small allele at this site is indicated in parentheses and should be unique within the allele represented by this VCV history.
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 particular variant.
The aggregate germline classification for this variant, ordinarily for the monogenic or Mendelian dysfunction as in the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI based upon details from thr777 submitters. Read our guidelines for calculating the aggregate classification.
There aren't any citations for germline classification of the variant in ClinVar. If you understand of citations for this variation, you should look at distributing that data to ClinVar.
The quantity of variants in ClinVar which might be contained inside this gene, with a connection to look at the list of variants.
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Stars represent the combination assessment standing, or the extent of assessment supporting the mixture germline classification for this VCV file.
The amount of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or thoroughly have the gene.
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Stars represent the evaluate status, or the extent of critique supporting the submitted (SCV) report. This price is calculated by NCBI determined by knowledge through the submitter.