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Study our policies for calculating the critique position. This column also features a link to your submitter’s assertion requirements if offered, and the collection strategy.

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The combination germline classification for this variant, normally to get a monogenic or Mendelian condition as inside the ACMG/AMP recommendations, or for reaction to the drug. This price is calculated by NCBI based upon info from submitters. Browse our principles for calculating the combination classification.

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The distributing Corporation for this submitted (SCV) report. This column also incorporates the SCV accession and Edition range, the day this SCV very first appeared in ClinVar, and the day this SCV was last up to date in ClinVar.

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This sequence transform influences codon 777 with the GAA mRNA. It is just a 'silent' transform, indicating that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, and that is Portion of the consensus splice web site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported within the literature in men and women impacted with GAA-relevant circumstances.

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