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Examine our policies for calculating the overview status. This column also features a link for the submitter’s assertion criteria if delivered, and the collection technique.

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Stars signify the combination assessment standing, or the extent of overview supporting the aggregate germline classification for this VCV report.

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The affliction for the classification, provided by the submitter for this submitted (SCV) report. This column also includes the impacted standing and allele origin of people noticed with this variant.

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There aren't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to look at distributing that details to ClinVar.

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03%). This variant hasn't been noted in the literature in persons impacted with GAA-similar problems. ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively common reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the outcome of sequence alterations on RNA splicing counsel that this variant may well produce or improve a splice site. In summary, the offered proof is currently insufficient to find out the job of the variant in illness. For that reason, it's been classified as being a Variant of Uncertain Significance. Okay