The outcome of your variant on RNA or protein functionality, based on experimental proof from submitters.
This worth is calculated by NCBI according to data from submitters. Browse our regulations for calculating the overview status. The number of submissions which contribute to this evaluate standing is revealed in parentheses.
There isn't any useful proof in ClinVar for this variation. Should you have produced purposeful knowledge for this variation, you should take into consideration publishing that facts to ClinVar.
This column involves more details supporting the classification, such as citations, the touch upon classification, and specific evidence delivered as observations with the variant because of the submitter.
The issue for your classification, furnished by the submitter for this submitted (SCV) document. This column also features the impacted position and allele origin of people noticed with this particular variant.
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There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to consider publishing that information and facts to ClinVar.
The amount of variants in ClinVar which can be contained inside this gene, which thr777 has a backlink to check out the listing of variants.
These citations are identified by LitVar utilizing the rs number, so They might include citations for more than one variant at this site. Please assessment the LitVar outcomes carefully on your variant of interest. File very last current Could 19, 2024
Aberrant five' splice sites in human illness genes: mutation pattern, nucleotide composition and comparison of computational applications that predict their utilization.
Stars depict the combination assessment standing, or the extent of review supporting the combination germline classification for this VCV file.
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Stars symbolize the assessment standing, or the extent of assessment supporting the submitted (SCV) report. This value is calculated by NCBI depending on details through the submitter.