ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively prevalent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the impact of sequence improvements on RNA splicing counsel this variant may perhaps create or strengthen a splice website. In summary, the offered evidence is at present insufficient to ascertain the job of the variant in ailment. Thus, it has been classified as a Variant of Unsure Significance.

This worth is calculated by NCBI according to data from submitters. Browse our regulations for calculating the overview status. The volume of submissions which contribute to this overview position is proven in parentheses.

There's no useful evidence in ClinVar for this variation. For those who have generated purposeful data for this variation, please think about distributing that info to ClinVar.

The worldwide slight allele frequency calculated by the a thousand Genomes Job. The minimal allele at this spot is indicated in parentheses and will be various from the allele represented by this VCV history.

The condition for your classification, furnished by the submitter for this submitted (SCV) report. This column also involves the affected standing and allele origin of people observed with this particular variant.

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Read through our policies for calculating the overview position. This column also features a website link towards the submitter’s assertion criteria if delivered, and the gathering approach.

The submitting organization for this submitted (SCV) history. This column also involves the SCV accession and version number, the day this SCV initially appeared in ClinVar, and the date that this SCV was very last updated in ClinVar.

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The number of variants in ClinVar for this gene, including smaller variants in the gene and larger CNVs that overlap or completely consist of the gene.

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