The result in the variant on RNA or protein perform, depending on experimental proof from submitters.
This worth is calculated by NCBI determined by facts from submitters. Browse our regulations for calculating the evaluate standing. The amount of submissions which lead to this assessment status is demonstrated in parentheses.
There's no practical evidence in ClinVar for this variation. When you've got generated purposeful facts for this variation, you should consider distributing that info to ClinVar.
The global insignificant allele frequency calculated by the one thousand Genomes Undertaking. The small allele at this place is indicated in parentheses and may be distinctive within the allele represented by this VCV report.
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The mixture germline classification for this variant, generally for just a monogenic or Mendelian disorder as inside the ACMG/AMP pointers, or for reaction to your drug. This benefit is calculated by NCBI based on info from submitters. Go through our policies for calculating the mixture classification.
There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, you should look thr777 at distributing that data to ClinVar.
The submitting Corporation for this submitted (SCV) document. This column also involves the SCV accession and version range, the date this SCV to start with appeared in ClinVar, plus the date that this SCV was very last updated in ClinVar.
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Aberrant 5' splice sites in human illness genes: mutation sample, nucleotide composition and comparison of computational instruments that predict their utilization.
Stars characterize the mixture review position, or the level of review supporting the mixture germline classification for this VCV document.
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