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The volume of variants in ClinVar which are contained within just this gene, using a url to see the listing of variants.
This column involves additional information supporting the classification, which include citations, the touch upon classification, and specific evidence offered as observations on the variant through the submitter.
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There isn't a useful proof in ClinVar for this variation. When you have produced useful data for this variation, remember to consider submitting that knowledge to ClinVar.
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03%). This variant has not been claimed from the literature in men and women affected with GAA-similar circumstances. ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively typical explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the influence of sequence adjustments on RNA splicing counsel that this variant may make or reinforce a splice web page. In summary, the offered proof is at present inadequate to find out the role of this variant in disease. For that reason, it's been classified for a Variant of Unsure Significance. Okay
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Stars signify the aggregate evaluation status, or the level of review supporting the combination germline classification for this VCV history.
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