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The aggregate germline classification for this variant, ordinarily to get a monogenic or Mendelian condition as while in the ACMG/AMP pointers, or for reaction to some drug. This worth is calculated by NCBI determined by facts from submitters. Browse our rules for calculating the combination classification.
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The distributing Firm for this submitted (SCV) report. This column also includes the SCV accession and version quantity, the day this SCV first appeared in ClinVar, and also the date this SCV was very last updated in ClinVar.
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03%). This variant hasn't been claimed from the literature in men and women impacted with GAA-related disorders. ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively popular reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the result of sequence modifications on RNA splicing counsel that this variant may well generate or reinforce a splice web page. In summary, the out there evidence is presently inadequate to determine the job of this variant in disease. Thus, it has been categorized as a Variant of Uncertain Importance. OK
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