The outcome of your variant on RNA or protein purpose, based upon experimental evidence from submitters.
This value is calculated by NCBI dependant on facts from submitters. Read through our principles for calculating the evaluation position. The amount of submissions which add to this overview status is demonstrated in parentheses.
This date represents the last time this VCV history was up to date. The update could possibly be on account of an update to one of the incorporated submitted data (SCVs), or as a consequence of an update that ClinVar produced for the variant for example incorporating HGVS expressions or simply a rs number.
The worldwide insignificant allele frequency calculated by the a thousand Genomes Challenge. The minor allele at this site is indicated in parentheses and may be distinct through the allele represented by this VCV report.
The affliction for your classification, furnished by the submitter for this submitted (SCV) file. This column also includes the influenced position and allele origin of individuals observed using this type of variant.
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Read our rules for calculating the evaluate position. This column also includes a hyperlink to the submitter’s assertion conditions if furnished, and the collection technique.
The number of variants in ClinVar that are contained within just this gene, by using a website link to view the listing of variants.
These citations are discovered by LitVar utilizing the rs number, so thr777 They could contain citations for multiple variant at this place. You should review the LitVar benefits carefully on your variant of desire. Record previous up-to-date May 19, 2024
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Stars signify the overview standing, or the level of evaluation supporting the submitted (SCV) record. This benefit is calculated by NCBI based on details in the submitter.