This worth is calculated by NCBI based on knowledge from submitters. Study our procedures for calculating the assessment status. The volume of submissions which contribute to this overview position is shown in parentheses.
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Stars symbolize the combination overview status, or the extent of evaluation supporting the combination germline classification for this VCV file.
Aberrant five' splice internet sites in human illness genes: mutation sample, nucleotide structure and comparison of computational equipment that forecast their utilization.
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The publishing Corporation for this submitted (SCV) report. This column also incorporates the SCV accession and Model amount, the date this SCV very first appeared in ClinVar, as well as the date this SCV was previous updated in ClinVar.
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The influence on the variant on RNA or protein operate, according to experimental proof from submitters.
There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please take into consideration publishing that information and facts to ClinVar.
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