ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively prevalent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the result of sequence adjustments on RNA splicing counsel this variant may possibly produce or fortify a splice internet site. In summary, the obtainable evidence is now insufficient to determine the purpose of the variant in disorder. Thus, it has been labeled to be a Variant of Uncertain Significance.

This worth is calculated by NCBI dependant on data from submitters. Read our principles for calculating the assessment status. The quantity of submissions which contribute to this assessment position is proven in parentheses.

This day represents the final time this VCV history was current. The update may be resulting from an update to one of the integrated submitted records (SCVs), or because of an update that ClinVar produced into the variant for instance including HGVS expressions or a rs range.

This column contains more info supporting the classification, which includes citations, the comment on classification, and thorough evidence offered as observations in the variant with the submitter.

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Read through our rules for calculating the assessment standing. This column also includes a url to the submitter’s assertion requirements if presented, and the collection approach.

The publishing Firm for this submitted (SCV) document. This column also includes the SCV accession and Variation amount, the day this SCV 1st appeared in ClinVar, along with the day this SCV was final up-to-date in ClinVar.

These citations are recognized by LitVar utilizing the rs number, so They might involve citations for more than one variant at this location. Be sure to evaluate the LitVar effects cautiously on your variant of fascination. Report very last up-to-date May perhaps 19, 2024 

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Stars symbolize the aggregate evaluate standing, or the level of critique supporting the aggregate germline classification for this VCV document.

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Stars represent the review position, or the level of assessment supporting the submitted (SCV) document. This value is calculated by NCBI based on details within the submitter.