The influence with the variant on RNA or protein functionality, dependant on experimental evidence from submitters.
This value is calculated by NCBI dependant on data from submitters. Study our policies for calculating the review status. The number of submissions which lead to this evaluation status is proven in parentheses.
There is not any useful proof in ClinVar for this variation. If you have generated practical knowledge for this variation, you should consider publishing that facts to ClinVar.
This column involves more info supporting the classification, together with citations, the touch upon classification, and in depth proof presented as observations from the variant by the submitter.
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There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to take into account distributing that details to ClinVar.
The volume of variants in ClinVar that are contained inside this gene, having a hyperlink to view the listing of variants.
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Aberrant five' splice internet sites in human disorder genes: mutation sample, nucleotide construction and comparison of computational resources that predict their utilization.
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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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