The impact from the variant on RNA or protein function, according to experimental proof from submitters.
This price is calculated by NCBI depending on information from submitters. Read our procedures for calculating the evaluation standing. The amount of submissions which contribute to this assessment status is demonstrated in parentheses.
There isn't a useful proof in ClinVar for this variation. Should you have produced practical info for this variation, please look at distributing that information to ClinVar.
This column contains more information supporting the classification, including citations, the touch upon classification, and comprehensive proof offered as observations from the variant via the submitter.
The site is safe. The https:// makes sure you are connecting into the official Web-site and that any facts you supply is encrypted and transmitted securely.
The combination germline classification for this variant, typically for just a monogenic or Mendelian ailment as during the ACMG/AMP recommendations, or for reaction to some drug. This price is calculated by NCBI dependant on information from submitters. Read through our guidelines for calculating the aggregate classification.
Browse our policies for calculating the overview standing. This column also features a connection to your submitter’s assertion requirements if delivered, and the gathering process.
The submitting Corporation for this submitted (SCV) file. This column also includes the SCV accession and Edition variety, the thr777 day this SCV very first appeared in ClinVar, and the day that this SCV was previous updated in ClinVar.
These citations are determined by LitVar utilizing the rs selection, so They could include citations for multiple variant at this location. Remember to review the LitVar benefits carefully on your variant of fascination. File last updated May possibly 19, 2024
The internet site is secure. The https:// ensures that you're connecting for the Formal Web-site Which any data you supply is encrypted and transmitted securely.
Stars symbolize the aggregate evaluate standing, or the level of critique supporting the mixture germline classification for this VCV record.
The site is safe. The https:// makes certain that you'll be connecting on the Formal website Which any info you give is encrypted and transmitted securely.
The site is secure. The https:// assures that you will be connecting for the official Web page and that any information and facts you present is encrypted and transmitted securely.
Stars stand for the evaluate position, or the level of assessment supporting the submitted (SCV) document. This value is calculated by NCBI based on data within the submitter.