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This date represents the last time this VCV document was current. The update might be on account of an update to among the list of provided submitted documents (SCVs), or due to an update that ClinVar designed into the variant such as incorporating HGVS expressions or even a rs amount.
The distributing Group for this submitted (SCV) file. This column also incorporates the SCV accession and Variation number, the day this SCV first appeared in ClinVar, along with the day this SCV was previous up to date in ClinVar.
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03%). This variant hasn't been noted in the literature in people today influenced with GAA-connected circumstances. ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively common reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the result of sequence changes on RNA splicing advise that this variant may well develop or fortify a splice site. In summary, the offered evidence is at the moment insufficient to determine the position of this variant in sickness. Thus, it has been labeled as being a Variant of Unsure Importance. Okay
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These citations are discovered by LitVar utilizing the rs variety, so they may consist of citations for multiple variant at this area. Make sure you review the LitVar results diligently in your variant of curiosity. Record past up to date Might twelve, 2024
Stars characterize the overview status, or the extent of assessment supporting the submitted (SCV) document. This benefit is calculated by NCBI determined by info from the submitter.
The worldwide minor allele frequency calculated through the one thousand Genomes Job. The insignificant allele at this location is login thr777 indicated in parentheses and will be diverse from the allele represented by this VCV record.
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