ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively typical reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the effect of sequence alterations on RNA splicing recommend this variant may well develop or reinforce a splice web-site. In summary, the out there evidence is now inadequate to determine the job of this variant in disorder. As a result, it's been categorised like a Variant of Unsure Importance.

This price is calculated by NCBI dependant on info from submitters. Go through our regulations for calculating the assessment status. The number of submissions which contribute to this assessment standing is revealed in parentheses.

This date represents the last time this VCV report was current. The update could be as a result of an update to one of several included submitted records (SCVs), or on account of an update that ClinVar created to the variant which include incorporating HGVS expressions or possibly a rs variety.

This column contains additional information supporting the classification, including citations, the comment on classification, and thorough proof presented as observations of your variant by the submitter.

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Browse our regulations for calculating the critique status. This column also includes a website link for the submitter’s assertion conditions if furnished, and the collection system.

The publishing Firm for this submitted (SCV) report. This column also consists of the SCV accession and Model range, the day this SCV initial appeared in ClinVar, plus the date that this SCV was very last up-to-date in ClinVar.

These citations are identified by LitVar utilizing the rs quantity, so They could contain citations for more than one variant at this location. Please assessment the LitVar final results thoroughly in your variant of curiosity. Document very last up to date May 19, 2024 

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Stars depict the mixture review position, or the level of review supporting the mixture germline classification for this VCV document.

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Stars stand for the overview standing, or the level of overview supporting the submitted (SCV) record. This benefit is calculated by NCBI according to knowledge within the submitter.