The result of the variant on RNA or protein function, according to experimental proof from submitters.
This price is calculated by NCBI determined by info from submitters. Study our guidelines for calculating the review standing. The number of submissions which add to this assessment position is demonstrated in parentheses.
This date represents the last time this VCV file was current. The update might be as a consequence of an update to among the provided submitted data (SCVs), or due to an update that ClinVar produced for the variant for instance introducing HGVS expressions or simply a rs number.
This column features more details supporting the classification, including citations, the comment on classification, and in-depth evidence supplied as observations of 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 individuals observed using this type of variant.
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There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that info to ClinVar.
The distributing organization for this submitted (SCV) report. This column also contains the SCV accession and Variation variety, the day this SCV initially appeared in ClinVar, as well as the day this SCV was previous current in ClinVar.
These citations are determined by LitVar utilizing the rs amount, so They could consist of citations for multiple variant at this location. Remember to evaluate the LitVar effects thoroughly for the variant of fascination. History final up to date May well 19, 2024
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Stars characterize the mixture evaluation position, or the level of evaluation supporting the combination germline classification for this thr777 VCV file.
The amount of variants in ClinVar for this gene, including scaled-down variants within the gene and larger CNVs that overlap or absolutely incorporate the gene.
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Stars depict the evaluate standing, or the level of evaluation supporting the submitted (SCV) document. This value is calculated by NCBI based on data from the submitter.