The impact on the variant on RNA or protein functionality, based upon experimental evidence from submitters.
This worth is calculated by NCBI according to data from submitters. Study our procedures for calculating the review status. The volume of submissions which add to this evaluation status is demonstrated in parentheses.
There is not any purposeful proof in ClinVar for this variation. In case you have generated purposeful data for this variation, be sure to consider submitting that information to ClinVar.
This column involves more info supporting the classification, such as citations, the comment on classification, and specific proof provided as observations of the variant via the submitter.
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.
The combination germline classification for this variant, ordinarily for any monogenic or Mendelian disorder as inside the ACMG/AMP rules, or for reaction to your drug. This benefit is calculated by NCBI according to information from submitters. Read through our procedures for calculating the combination classification.
There are no citations for thr777 germline classification of the variant in ClinVar. If you know of citations for this variation, make sure you contemplate submitting that info to ClinVar.
The submitting Group for this submitted (SCV) document. This column also features the SCV accession and Model quantity, the day this SCV initial appeared in ClinVar, as well as date this SCV was past up to date in ClinVar.
These citations are recognized by LitVar using the rs number, so They might incorporate citations for multiple variant at this spot. Please assessment the LitVar effects carefully for your personal variant of curiosity. File final up-to-date Could 19, 2024
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Stars symbolize the combination evaluate status, or the level of review supporting the aggregate germline classification for this VCV document.
The amount of variants in ClinVar for this gene, which include scaled-down variants in the gene and larger CNVs that overlap or thoroughly have the gene.
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