The outcome of your variant on RNA or protein purpose, dependant on experimental evidence from submitters.
This value is calculated by NCBI dependant on facts from submitters. Read through our guidelines for calculating the overview standing. The amount of submissions which add to this overview status is demonstrated in parentheses.
There is absolutely no useful evidence in ClinVar for this variation. In case you have produced practical information for this variation, make sure you contemplate submitting that data to ClinVar.
The worldwide minimal allele frequency calculated because of the one thousand Genomes Undertaking. The minor allele at this location is indicated in parentheses and should be diverse in the allele represented by this VCV history.
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There won't be any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, you should look at distributing that data to ClinVar.
The publishing Firm for this submitted (SCV) record. This column also features the SCV accession and Model selection, the date this SCV first appeared in ClinVar, plus the date this SCV was past updated in ClinVar.
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Aberrant 5' splice web-sites in human sickness genes: mutation sample, nucleotide framework and comparison of computational instruments that predict their utilization.
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The amount of variants in ClinVar for this gene, including scaled-down variants within the gene and thr777 larger CNVs that overlap or absolutely have the gene.
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Stars represent the review position, or the extent of assessment supporting the submitted (SCV) document. This value is calculated by NCBI according to data through the submitter.