The outcome with the variant on RNA or protein purpose, based upon experimental proof from submitters.
This worth is calculated by NCBI according to data from submitters. Read our policies for calculating the critique standing. The number of submissions which contribute to this overview position is proven in parentheses.
There's no practical proof in ClinVar for this variation. If you have created purposeful details for this variation, be sure to take into consideration publishing that facts to ClinVar.
This column involves more details supporting the classification, such as citations, the touch upon classification, and detailed evidence supplied as observations with the variant because of the submitter.
The problem for your classification, supplied by the submitter for this submitted (SCV) record. This column also features the impacted position and allele origin of individuals observed using this type of variant.
The combination germline classification for this variant, usually for a monogenic or Mendelian ailment as in the ACMG/AMP suggestions, or for response into a drug. This worth is calculated by NCBI dependant on details from submitters. Read our guidelines for calculating the aggregate classification.
There are no citations thr777 for germline classification of the variant in ClinVar. If you know of citations for this variation, please think about submitting that details to ClinVar.
The distributing organization for this submitted (SCV) report. This column also contains the SCV accession and Variation amount, the day this SCV initially appeared in ClinVar, as well as the date that this SCV was past up to date in ClinVar.
These citations are discovered by LitVar using the rs range, so they may incorporate citations for multiple variant at this area. Be sure to overview the LitVar results meticulously for your personal variant of curiosity. File past updated Could 19, 2024
Aberrant 5' splice web pages in human ailment genes: mutation pattern, nucleotide framework and comparison of computational tools that forecast their utilization.
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