The effect of your variant on RNA or protein purpose, dependant on experimental proof from submitters.
This benefit is calculated by NCBI dependant on facts from submitters. Read through our principles for calculating the evaluation position. The quantity of submissions which contribute to this evaluation position is proven in parentheses.
There is not any purposeful proof in ClinVar for this variation. Should you have produced useful knowledge for this variation, remember to take into account distributing that information to ClinVar.
The global insignificant allele frequency calculated via the a thousand Genomes Task. The slight allele at this place is indicated in parentheses and should be diverse from your allele represented by this VCV record.
The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also consists of the afflicted status and allele origin of individuals noticed with this variant.
The mixture germline classification for this variant, generally for your monogenic or Mendelian ailment as within the ACMG/AMP tips, or for response into a drug. This price is calculated by NCBI based upon details from submitters. Read our guidelines for calculating the aggregate classification.
There are no citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to consider publishing that facts to ClinVar.
The volume of variants in ClinVar that are contained in just this gene, that has a website link to see the listing of variants.
These citations are determined by LitVar utilizing the rs amount, so They could consist of citations for multiple variant at this locale. Make sure you evaluate the LitVar outcomes thoroughly for the variant of curiosity. Report previous current May 19, 2024
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The quantity of variants in ClinVar for this gene, such as smaller variants inside the gene and bigger CNVs that overlap or completely include the gene.
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