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The aggregate germline classification for this variant, generally for just a monogenic or Mendelian disorder as within the ACMG/AMP rules, or for reaction to your drug. This price is calculated by NCBI based on information from submitters. Go through our principles for calculating the combination classification.
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The quantity of variants in ClinVar for this gene, like smaller sized variants throughout the gene and larger CNVs that overlap or totally comprise the gene.
03%). This variant hasn't been noted while in the literature in individuals affected with GAA-connected ailments. ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively prevalent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the outcome of sequence changes on RNA splicing recommend that this variant could generate or improve a splice web page. In summary, the available proof is at this time inadequate to ascertain the purpose of the variant in ailment. As a result, it's been labeled as being a Variant of Unsure Significance. OK
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