The result of your variant on RNA or protein function, based on experimental evidence from submitters.
This value is calculated by NCBI determined by information from submitters. Go through our procedures for calculating the assessment status. The volume of submissions which contribute to this evaluate standing is revealed in parentheses.
There isn't any functional proof in ClinVar for this variation. If you have created purposeful details for this variation, be sure to take into consideration publishing that facts to ClinVar.
The global small allele frequency calculated from the a thousand Genomes Job. The minimal allele at this spot is indicated in parentheses and may be different within the allele represented by this VCV report.
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The aggregate germline classification for this variant, normally for your monogenic or Mendelian ailment as in the ACMG/AMP suggestions, or for response to some drug. This worth is calculated by NCBI determined by facts from submitters. thr777 Browse our policies for calculating the combination classification.
Read through our principles for calculating the assessment status. This column also features a url for the submitter’s assertion criteria if provided, and the gathering approach.
The number of variants in ClinVar that are contained in just this gene, by using a website link to view the listing of variants.
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Stars stand for the mixture assessment status, or the extent of evaluation supporting the combination germline classification for this VCV report.
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Stars signify the evaluation status, or the extent of critique supporting the submitted (SCV) report. This worth is calculated by NCBI determined by info from your submitter.