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The issue with the classification, furnished by the submitter for this submitted (SCV) record. This column also consists of the affected status and allele origin of people observed with this particular variant.
This date signifies the last time this VCV record was updated. The update could be resulting from an update to one of the integrated submitted information (SCVs), or as a result of an update that ClinVar manufactured to your variant which include introducing HGVS expressions or simply a rs selection.
The number of variants in ClinVar that happen to be contained inside this gene, that has a link to look at the listing of variants.
Aberrant 5' splice sites in human disease genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
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The number of variants in ClinVar for this gene, which include more compact variants within the gene and bigger CNVs that overlap or totally contain the gene.
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The result of your variant on RNA or protein perform, based upon experimental proof from submitters.
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