The impact in the variant on RNA or protein operate, based upon experimental evidence from submitters.

This value is calculated by NCBI dependant on facts from submitters. Read through our policies for calculating the evaluation position. The quantity of submissions which contribute to this critique status is revealed in parentheses.

This date represents the last time this VCV file was up-to-date. The update may be as a consequence of an update to among the provided submitted data (SCVs), or due to an update that ClinVar produced for the variant for instance incorporating HGVS expressions or a rs amount.

The global minimal allele frequency calculated with the one thousand Genomes Undertaking. The minor allele at this location is indicated in parentheses and could be unique with the allele represented by this VCV file.

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The combination germline classification for this variant, usually for the monogenic or Mendelian dysfunction as during the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI determined by facts from submitters. Browse our rules for calculating the aggregate classification.

There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please consider publishing that data to ClinVar.

The number of variants in ClinVar which have been contained within just this gene, by using a website link to view the listing of variants.

These citations are identified by LitVar using the rs selection, so they may include things like citations for more than one variant at this spot. Make sure you thr777 overview the LitVar results diligently to your variant of curiosity. Document final current May 19, 2024 

Aberrant five' splice websites in human disorder genes: mutation sample, nucleotide construction and comparison of computational equipment that predict their utilization.

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The quantity of variants in ClinVar for this gene, which includes lesser variants inside the gene and bigger CNVs that overlap or completely comprise the gene.

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Stars stand for the evaluate position, or the level of assessment supporting the submitted (SCV) document. This value is calculated by NCBI dependant on details in the submitter.