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The situation for the classification, furnished by the submitter for this submitted (SCV) record. This column also contains the influenced standing and allele origin of people observed with this particular variant.

This day represents the final time this VCV history was up to date. The update may be as a consequence of an update to one of several included submitted records (SCVs), or on account of an update that ClinVar designed to the variant including incorporating HGVS expressions or possibly a rs range.

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Aberrant 5' splice web sites in human condition genes: mutation pattern, nucleotide structure and comparison of computational equipment that forecast their utilization.

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The global insignificant allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and will be distinct from your allele represented by this VCV file.

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