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This price is calculated by NCBI based on data from submitters. Browse our guidelines for calculating the evaluate status. The quantity of submissions which add to this assessment standing is revealed in parentheses.

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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the impact of sequence modifications on RNA splicing propose this variant might generate or bolster a splice web site. In summary, the obtainable evidence is currently inadequate to determine the job of this variant in sickness. For that reason, it's been categorized like a Variant of Unsure Significance. (a lot less)

So this date might be various within the day in the “most recent submission” claimed at the highest of this site. Help Follow NCBI

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These citations are identified by LitVar utilizing the rs amount, so They might include citations for more than one variant at this locale. Remember to evaluate the LitVar final results diligently for your variant of interest. Report last updated Could 12, 2024 

The distributing Firm for this submitted (SCV) document. This column also consists of the SCV accession and version selection, the day this SCV very first appeared in ClinVar, as well as the date that this SCV was last updated in ClinVar.

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There are no citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, make sure you contemplate submitting that information to ClinVar.

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