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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence variations on RNA splicing recommend that this variant may well make or reinforce a splice web page. In summary, the available evidence is at present inadequate to determine the role of this variant in disease. Therefore, it's been labeled for a Variant of Uncertain Importance. Alright

These citations are identified by LitVar utilizing the rs amount, so they may include things like citations for multiple variant at this area. Make sure you review the LitVar benefits carefully on your variant of desire. Document very last updated May possibly 19, 2024 

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This column includes more information supporting the classification, such as citations, the touch upon classification, and comprehensive proof provided as observations of your variant from the submitter.

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The volume of variants in ClinVar for this gene, which includes lesser variants within the gene and larger CNVs that overlap or thoroughly include the gene.

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There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, please consider publishing that info to ClinVar.

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