The result of the variant on RNA or protein perform, based upon experimental evidence from submitters.
This value is calculated by NCBI determined by details from submitters. Read through our regulations for calculating the assessment position. The number of submissions which lead to this critique standing is proven in parentheses.
There is not any practical evidence in ClinVar for this variation. When you've got generated functional facts for this variation, please take into account distributing that knowledge to ClinVar.
The worldwide minor allele frequency calculated from the one thousand Genomes Project. The insignificant allele at this area is indicated in parentheses and may be distinct through the allele represented by this VCV record.
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Go through thr777 our guidelines for calculating the review position. This column also includes a url to your submitter’s assertion criteria if furnished, and the collection process.
The distributing Firm for this submitted (SCV) record. This column also consists of the SCV accession and version range, the day this SCV initial appeared in ClinVar, plus the date this SCV was final updated in ClinVar.
These citations are discovered by LitVar utilizing the rs number, so they may include things like citations for multiple variant at this area. You should evaluation the LitVar final results thoroughly for the variant of desire. Report past updated May well 19, 2024
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