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Stars depict the assessment position, or the level of overview supporting the submitted (SCV) record. This worth is calculated by NCBI according to info with the submitter.
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively prevalent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the outcome of sequence alterations on RNA splicing recommend this variant may possibly produce or fortify a splice internet site. In summary, the accessible evidence is currently insufficient to determine the job of this variant in disorder. Consequently, it's been categorised like a Variant of Unsure Significance. Okay
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There is not any purposeful proof in ClinVar for this variation. In case you have produced functional facts for this variation, you should take into account distributing that information to ClinVar.
The submitting organization for this submitted (SCV) document. This column also contains the SCV accession and Edition range, the day this SCV to start with appeared in ClinVar, along with the day that this SCV was previous up to date in ClinVar.
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This day signifies the last time this VCV history was current. The update could possibly be as a result of an update to one of many incorporated submitted documents (SCVs), or resulting from an update that ClinVar manufactured towards the variant including incorporating HGVS expressions or a rs amount.
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