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The volume of variants in ClinVar for this gene, including lesser variants in the gene and larger CNVs that overlap or totally contain the gene.
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These citations are recognized by LitVar using the rs amount, so They could consist of citations for more than one variant at this location. Make sure you critique the LitVar outcomes thoroughly for the variant of curiosity. Report very last up-to-date Could twelve, 2024
The mixture germline classification for this variant, usually for your monogenic or Mendelian dysfunction as within the ACMG/AMP pointers, or for reaction to some drug. This price is calculated by NCBI based on knowledge from submitters. Browse our guidelines for calculating the mixture classification.
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The outcome with the variant on RNA or protein function, based upon experimental evidence from submitters.
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Study our policies for calculating the evaluate status. This column also features a link towards the submitter’s assertion requirements if presented, and the gathering system.