The effect of your variant on RNA or protein purpose, determined by experimental proof from submitters.
This value is calculated by NCBI according to details from submitters. Read through our policies for calculating the evaluation position. The volume of submissions which lead to this evaluate status is shown in parentheses.
This day represents the last time this VCV file was current. The update could possibly be on account of an update to one of the provided submitted records (SCVs), or on account of an update that ClinVar made for the variant for instance including HGVS expressions or even a rs quantity.
This column involves more details supporting the classification, including citations, the touch upon classification, and in depth proof presented as observations from the variant by the submitter.
The affliction to the classification, furnished by the submitter for this submitted (SCV) file. This column also includes the influenced position and allele origin of individuals observed with this variant.
The aggregate germline classification for this variant, ordinarily to get a monogenic or Mendelian problem as within the ACMG/AMP suggestions, or for reaction to the drug. This value is calculated by NCBI based on details from submitters. Study our principles for calculating the mixture classification.
There are no citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, remember to take into account distributing that facts to ClinVar.
The quantity of variants in ClinVar which can be contained inside of this gene, using a website link to look at the list of variants.
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Aberrant five' splice sites in human disease genes: mutation sample, nucleotide composition and comparison of computational applications that forecast their utilization.
Stars signify the combination critique status, or the extent of overview supporting the aggregate germline classification for this VCV file.
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