An Unbiased View of thr777
An Unbiased View of thr777
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This day represents the final time this VCV history was up to date. The update may very well be resulting from an update to one of many bundled submitted information (SCVs), or resulting from an update that ClinVar designed towards the variant which include including HGVS expressions or a rs amount.
This price is calculated by NCBI according to knowledge from submitters. Read our policies for calculating the overview position. The amount of submissions which lead to this evaluate status is proven in parentheses.
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This value is calculated by NCBI according to info from submitters. Read through our regulations for calculating the evaluate position. The volume of submissions which add to this evaluate position is demonstrated in parentheses.
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03%). This variant hasn't been described while in the literature in folks affected with GAA-related disorders. ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the result of sequence modifications on RNA splicing counsel that this variant may make or bolster a splice site. In summary, the readily available evidence is now insufficient to ascertain the function of the variant in illness. Thus, it has been labeled for a Variant of Uncertain Significance. Alright
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These citations are identified by LitVar utilizing the rs range, so They might include things like citations for multiple variant at this spot. Remember to overview the LitVar benefits meticulously on your variant of curiosity. Record last current Could 12, 2024
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Stars stand for the combination evaluate position, or the extent of critique supporting the mixture germline classification for this VCV file.
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