The impact of the variant on RNA or protein functionality, based on experimental proof from submitters.
This worth is calculated by NCBI according to data from submitters. Browse our regulations for calculating the overview status. The volume of submissions which contribute to this review standing is shown in parentheses.
This day signifies the final time this VCV record was updated. The update can be as a result of an update to on the list of incorporated submitted documents (SCVs), or resulting from an update that ClinVar created for the variant for instance incorporating HGVS expressions or perhaps a rs variety.
This column involves more details supporting the classification, such as citations, the touch upon classification, and thorough evidence delivered as observations with the variant with the submitter.
The ailment to the classification, furnished by the submitter for this submitted (SCV) report. This column also contains the influenced standing and allele origin of individuals noticed using this type of variant.
The aggregate germline classification for this variant, generally for just a monogenic or Mendelian disorder as inside the ACMG/AMP pointers, or for response to some drug. This worth is calculated by NCBI based upon details from submitters. Read our guidelines for calculating the aggregate 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 at distributing that data to ClinVar.
The amount of variants in ClinVar which thr777 are contained within this gene, which has a url to check out the listing of variants.
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Aberrant five' splice web pages in human sickness genes: mutation sample, nucleotide framework and comparison of computational resources that predict their utilization.
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The volume of variants in ClinVar for this gene, like smaller sized variants in the gene and larger CNVs that overlap or entirely consist of the gene.
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Stars depict the overview standing, or the level of assessment supporting the submitted (SCV) history. This value is calculated by NCBI according to information from the submitter.