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This value is calculated by NCBI determined by details from submitters. Study our policies for calculating the review status. The quantity of submissions which contribute to this critique position is shown in parentheses.
The number of variants in ClinVar for this gene, like smaller variants inside the gene and larger CNVs that overlap or thoroughly contain the gene.
This price is calculated by NCBI dependant on data from submitters. Study our guidelines for calculating the assessment standing. The amount of submissions which contribute to this evaluation status is shown in parentheses.
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The volume of variants in ClinVar for this gene, which includes scaled-down variants within the gene and larger CNVs that overlap or absolutely incorporate the gene.
03%). This variant hasn't been described within the literature in folks impacted with GAA-linked ailments. ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the impact of sequence improvements on RNA splicing propose that this variant could develop or strengthen a splice website. In summary, the accessible proof is at this time inadequate to determine the job of this variant login thr777 in illness. As a result, it's been classified like a Variant of Uncertain Importance. OK
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