The influence on the variant on RNA or protein operate, based upon experimental evidence from submitters.
This benefit is calculated by NCBI based upon knowledge from submitters. Go through our guidelines for calculating the review standing. The number of submissions which lead to this review standing is demonstrated in parentheses.
There is no functional evidence in ClinVar for this variation. Should you have created useful facts for this variation, please take into account distributing that knowledge to ClinVar.
The global slight allele frequency calculated because of the one thousand Genomes Job. The minimal allele at this spot is indicated in parentheses and should be diverse through the allele represented by this VCV file.
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The mixture germline classification for this variant, usually for a monogenic or Mendelian ailment as from the ACMG/AMP tips, or for reaction to some drug. This benefit is calculated by NCBI determined by knowledge from submitters. Go through our rules for calculating the aggregate classification.
There isn't any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, please contemplate publishing that information to ClinVar.
The quantity of variants in ClinVar which might be contained inside of this gene, by using a backlink to look at the list of variants.
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The website is secure. The https:// assures that you'll be connecting to the Formal Web page Which any facts you offer is encrypted and transmitted securely.
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The number of variants in ClinVar for this gene, which include more compact variants throughout the gene and larger CNVs that overlap or absolutely comprise the gene.
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Stars signify the evaluate status, or the level of overview supporting the submitted (SCV) record. This value is thr777 calculated by NCBI based upon data from your submitter.