The aggregate germline classification for this variant, typically for just a monogenic or Mendelian problem as inside the ACMG/AMP recommendations, or for reaction into a drug. This value is calculated by NCBI dependant on facts from submitters. Go through our guidelines for calculating the combination classification.

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Aberrant five' splice web-sites in human condition genes: mutation pattern, nucleotide construction and comparison of computational resources that forecast their utilization.

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There isn't a useful evidence in ClinVar for this variation. When you've got created purposeful details for this variation, please consider distributing that info to ClinVar.

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These citations are determined by LitVar using the rs quantity, so They might involve citations for multiple variant at this place. Please evaluation the LitVar effects very carefully for your personal variant of interest. File very last updated Might 12, 2024 

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