The outcome with the variant on RNA or protein operate, based upon experimental evidence from submitters.
This value is calculated by NCBI based on data from submitters. Examine our regulations for calculating the assessment status. The quantity of submissions which contribute to this evaluate standing is revealed in parentheses.
This day signifies the final time this VCV history was updated. The update can be due to an update to one of several incorporated submitted information (SCVs), or as a result of an update that ClinVar produced to the variant for example introducing HGVS expressions or a rs quantity.
The worldwide slight allele frequency calculated because of the one thousand Genomes Undertaking. The minor allele at this location is indicated in parentheses and could be unique through the allele represented by this VCV document.
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Examine our principles for calculating the evaluation status. This column also features a link to the submitter’s assertion conditions if provided, and the gathering technique.
The submitting Corporation for this submitted (SCV) history. This column also involves the SCV accession and version selection, the date this SCV to start with appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.
These citations are discovered by LitVar using the rs variety, so They could incorporate citations for multiple variant at this place. You should evaluation the LitVar effects cautiously in your variant of desire. Document previous up-to-date May 19, 2024
Aberrant 5' splice sites in human illness genes: mutation sample, nucleotide composition and comparison of computational instruments that predict their utilization.
Stars symbolize the aggregate evaluate standing, or the level of critique supporting the mixture germline classification for this VCV record.
The quantity of variants in ClinVar for this gene, such as scaled-down variants within the gene and larger CNVs that overlap or fully incorporate the gene.
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