The outcome of your variant on RNA or protein purpose, dependant on experimental evidence from submitters.
This value is calculated by NCBI based on details from submitters. Examine our policies for calculating the assessment position. The quantity of submissions which add to this critique status is proven in parentheses.
There is no functional proof in ClinVar for this variation. If you have created purposeful facts for this variation, you should look at publishing that information to ClinVar.
The global insignificant allele frequency calculated via the one thousand Genomes Project. The minor allele at this location is indicated in parentheses and could be unique through the allele represented by this VCV document.
The situation for that classification, supplied by the submitter for this submitted (SCV) report. This column also consists of the influenced status and allele origin of individuals noticed with this variant.
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There aren't any citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please think about submitting that information to ClinVar.
The publishing Firm for this submitted (SCV) record. This column also features the SCV accession and Edition selection, the date this SCV initially appeared in ClinVar, as well as the day that this SCV was previous current in ClinVar.
These citations are determined by LitVar utilizing the rs quantity, so They might consist of citations for more than one variant at this site. Please overview the LitVar results meticulously for your personal variant of interest. File final up-to-date May perhaps 19, 2024
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Stars represent the combination assessment position, or the extent of evaluation supporting the combination germline classification for this VCV document.
The number of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or thoroughly include the gene.
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Stars depict the assessment status, or the extent of evaluate supporting the submitted (SCV) history. This benefit is calculated by NCBI according to info from your submitter.