The result of your variant on RNA or protein purpose, depending on experimental evidence from submitters.
This worth is calculated by NCBI determined by data from submitters. Go through our guidelines for calculating the critique position. The number of submissions which contribute to this critique status is revealed in parentheses.
There is absolutely no practical evidence in ClinVar for this variation. For those who have generated functional information for this variation, make sure you take into account submitting that details to ClinVar.
This column features additional information supporting the classification, like citations, the comment on classification, and in-depth proof supplied as observations with the variant with the submitter.
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The mixture germline classification for this variant, ordinarily for a monogenic or Mendelian condition as while in the ACMG/AMP rules, or for reaction to the drug. This benefit is calculated by NCBI according to info from submitters. Read through our regulations for calculating the mixture classification.
There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, you should look at distributing that data to ClinVar.
The submitting Corporation for this submitted (SCV) file. This column also includes the SCV accession and Model quantity, the day this SCV initial appeared in ClinVar, and also the day this SCV was final up-to-date in ClinVar.
These citations are recognized by LitVar utilizing the rs number, so They might include citations for more than one variant at this site. Make sure you critique the LitVar outcomes thoroughly for the variant of fascination. Document very last updated Could 19, 2024
Aberrant 5' splice internet sites in human ailment genes: mutation pattern, nucleotide construction and comparison of computational resources that forecast their utilization.
Stars characterize the mixture evaluation position, or the level of review supporting the mixture germline classification for this VCV document.
The number of variants in ClinVar for this gene, which include smaller sized variants throughout the gene and larger CNVs that overlap or thoroughly include the gene.
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Stars depict the overview status, or the level of critique supporting the submitted (SCV) record. This value is calculated by NCBI determined by facts with the submitter.