thr777 Can Be Fun For Anyone
thr777 Can Be Fun For Anyone
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The influence of the variant on RNA or protein perform, determined by experimental evidence from submitters.
This benefit is calculated by NCBI based upon facts from submitters. Read through our principles for calculating the evaluation position. The quantity of submissions which contribute to this critique status is shown in parentheses.
This day signifies the last time this VCV report was current. The update can be as a consequence of an update to one of the involved submitted information (SCVs), or as a result of an update that ClinVar made on the variant such as adding HGVS expressions or even a rs variety.
This column consists of more details supporting the classification, such as citations, the touch upon classification, and in depth proof presented as observations in the variant from the submitter.
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The mixture germline classification for this variant, commonly for just a monogenic or Mendelian disorder as during the ACMG/AMP guidelines, or for response to some drug. This worth is calculated by NCBI based upon details from submitters. Read our guidelines for calculating the aggregate classification.
There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please think about submitting that information to ClinVar.
The amount of variants in ClinVar which can be contained within this gene, which has a backlink to check out the listing of variants.
These citations are identified by LitVar using the rs selection, so they may involve citations for more than one variant at this site. Make sure you critique the LitVar outcomes meticulously for your variant of curiosity. Report past updated Could 19, 2024
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Stars symbolize the aggregate evaluate standing, or the extent 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 bigger CNVs that overlap or fully incorporate the gene.
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