The influence on the variant on RNA or protein purpose, based upon experimental evidence from submitters.
This benefit is calculated by NCBI depending on details from submitters. Browse our guidelines for calculating the evaluation position. The quantity of submissions which lead to this evaluation status is shown in parentheses.
This day represents the last time this VCV report was updated. The update could be on account of an update to one of the provided submitted data (SCVs), or due to an update that ClinVar produced for the variant for instance including HGVS expressions or maybe a rs range.
This column features more info supporting the classification, including citations, the comment on classification, and in depth evidence furnished as observations on the variant by the submitter.
The affliction for the classification, provided by the submitter for this submitted (SCV) report. This column also features the influenced position and allele origin of individuals noticed using this type of variant.
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Study our principles for calculating the evaluation standing. This column also features a link to your submitter’s assertion requirements if furnished, and the gathering approach.
The number of variants in ClinVar which are contained within just this gene, having a hyperlink to watch the listing of variants.
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Aberrant five' splice internet sites in human condition genes: mutation pattern, nucleotide construction and comparison of computational instruments that forecast their utilization.
Stars characterize the aggregate review status, or the extent of review supporting the combination germline classification for this VCV record.
The quantity of variants in ClinVar for this gene, like lesser variants in the gene and bigger CNVs that overlap or fully include the gene.
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Stars represent the review standing, or the extent of critique supporting the submitted (SCV) report. This worth is calculated by NCBI according to data within the submitter.