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The condition to the classification, furnished by the submitter for this submitted (SCV) record. This column also involves the influenced status and allele origin of individuals observed using this type of variant.
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Stars depict the combination assessment position, or the level of critique supporting the mixture germline classification for this VCV report.
There is absolutely no functional evidence in ClinVar for this variation. When you've got generated practical facts for this variation, make sure you take into account submitting that facts to ClinVar.
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This column incorporates more info supporting the classification, which includes citations, the comment on classification, and specific proof provided as observations in the variant because of the submitter.
The number of variants in ClinVar for this gene, including lesser variants in the gene and larger CNVs that overlap or fully consist of the gene.
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03%). This variant has not been claimed while in the literature in people influenced with GAA-connected problems. ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the impact of sequence variations on RNA splicing recommend this variant may develop or fortify a splice web site. In summary, the readily available proof is at present inadequate to ascertain the role of this variant in condition. Hence, it's been classified like a Variant of Unsure Importance. Alright