The influence with the variant on RNA or protein operate, 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.
There's no useful evidence in ClinVar for this variation. In case you have produced practical details for this variation, please think about distributing that data to ClinVar.
The worldwide minimal allele frequency calculated because of the one thousand Genomes Undertaking. The small allele at this place is indicated in parentheses and could be unique with the allele represented by this VCV file.
The issue for the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the impacted standing and allele origin of people observed using this variant.
The combination germline classification for this variant, usually for the monogenic or Mendelian dysfunction as in the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI determined by data from submitters. Study our guidelines for calculating the aggregate classification.
Go through our principles for calculating the evaluation status. This column also features a backlink on the submitter’s assertion standards if offered, and the collection process.
The quantity of variants in ClinVar that happen to be contained inside of this gene, having a connection to watch the list of variants.
These citations are discovered by LitVar using the rs variety, so They could contain citations for multiple variant at this area. You should evaluation the LitVar effects cautiously in your variant of desire. File very last current Might 19, 2024
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The number of variants in ClinVar for this gene, which include smaller sized variants in the gene and larger CNVs that overlap or entirely include the gene.
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