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Stars characterize the assessment status, or the level of review supporting the submitted (SCV) report. This value is calculated by NCBI based upon details from your submitter.
The situation for that classification, provided by the submitter for this submitted (SCV) file. This column also includes the impacted standing and allele origin of people observed with this particular variant.
ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively frequent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the influence of sequence alterations on RNA splicing suggest this variant may possibly produce or fortify a splice web site. In summary, the available evidence is now insufficient to find out the role of this variant in sickness. Therefore, it has been labeled as a Variant of Uncertain Importance. Alright
Stars depict the aggregate review standing, or the extent of evaluation supporting the mixture germline classification for this VCV file.
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The submitting Corporation for this submitted (SCV) history. This column also features the SCV accession and Model variety, the date this SCV initial appeared thr777 in ClinVar, as well as the date this SCV was previous up-to-date in ClinVar.
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The amount of variants in ClinVar for this gene, including more compact variants within the gene and larger CNVs that overlap or totally incorporate the gene.
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The effect of the variant on RNA or protein function, based on experimental proof from submitters.
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