The outcome of your variant on RNA or protein perform, determined by experimental proof from submitters.
This worth is calculated by NCBI depending on information from submitters. Read our rules for calculating the critique standing. The number of submissions which lead to this evaluation position is shown in parentheses.
There is absolutely no purposeful proof in ClinVar for this variation. If you have created purposeful facts for this variation, be sure to consider publishing that info to ClinVar.
The global small allele frequency calculated through the one thousand Genomes Task. The slight allele at this area is indicated in parentheses and may be distinctive through the allele represented by this VCV record.
The problem for the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the affected standing and allele origin of people observed with this particular variant.
The mixture germline classification for this variant, ordinarily for any monogenic or Mendelian dysfunction as during the ACMG/AMP tips, or for response to some drug. This worth is calculated by NCBI determined by facts from submitters. Browse our rules for calculating the combination classification.
Browse our regulations for calculating the review position. This column also includes a backlink towards the submitter’s assertion criteria if furnished, and the gathering technique.
The distributing Firm for this submitted (SCV) file. This column also incorporates the SCV accession and thr777 Model range, the date this SCV first appeared in ClinVar, as well as date that this SCV was past up to date in ClinVar.
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Aberrant five' splice sites in human illness genes: mutation sample, nucleotide construction and comparison of computational instruments that forecast their utilization.
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The number of variants in ClinVar for this gene, which include smaller sized variants throughout the gene and larger CNVs that overlap or thoroughly include the gene.
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