ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the outcome of sequence adjustments on RNA splicing propose that this variant may possibly make or improve a splice web page. In summary, the accessible evidence is presently inadequate to ascertain the purpose of the variant in ailment. For that reason, it has been classified as a Variant of Unsure Significance.
This worth is calculated by NCBI according to facts from submitters. Go through our principles for calculating the evaluation position. The number of submissions which lead to this evaluation position is proven in parentheses.
This date signifies the final time this VCV document was up-to-date. The update can be on account of an update to one of the incorporated submitted data (SCVs), or as a consequence of an update that ClinVar made for the variant for example incorporating HGVS expressions or simply a rs amount.
This column involves more details supporting the classification, including citations, the touch upon classification, and thorough proof furnished as observations in the variant from the submitter.
The ailment to the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the affected standing and allele origin of people observed using this type of variant.
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Read through our policies for calculating the overview status. This column also features a backlink to your submitter’s assertion standards if offered, and the collection method.
The submitting Group for this submitted (SCV) file. This column also includes the SCV accession and Model amount, the date this SCV very first appeared in ClinVar, plus the day that this SCV was last up-to-date in ClinVar.
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Stars symbolize the aggregate review position, or the level of assessment supporting the mixture germline classification for this VCV report.
The volume of variants in ClinVar for this gene, together with lesser variants throughout the gene and bigger CNVs that overlap or entirely consist of the gene.
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