The aggregate germline classification for this variant, typically for just a monogenic or Mendelian dysfunction as while in the ACMG/AMP tips, or for response to some drug. This price is calculated by NCBI determined by information from submitters. Read our procedures for calculating the aggregate classification.
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This day represents the final time this VCV file was updated. The update might be as a consequence of an update to on the list of bundled submitted data (SCVs), or resulting from an update that ClinVar built to the variant such as introducing HGVS expressions or a rs quantity.
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There is not any purposeful proof in ClinVar for this variation. Should you have produced practical info for this variation, make sure you contemplate submitting that details to ClinVar.
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The condition for your classification, supplied by the submitter for this submitted (SCV) record. This column also consists of the impacted standing and allele origin of individuals observed with this particular variant.
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The global minimal allele frequency calculated via the 1000 Genomes Undertaking. The insignificant allele at this spot is indicated in parentheses and may be unique in the allele represented by this VCV file.
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